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Differences are not a clinical reassessment." } }, { "variation_id": "37398", "vcv": "VCV000037398.31", "genes": [ "BRCA1" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37398/", "analysis": { "official_aggregate_conflict": true, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 3, "scv_count": 3, "classifications": { "Likely benign": 2, "Uncertain significance": 1 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": true, "different_evaluation_dates": true, "evaluation_dates": [ "2023-03-23", "2024-04-15", "2025-05-13" ], "scvs": [ "SCV000185660.9", "SCV000688321.5", "SCV003846107.1" ], "rcvs": [ "RCV000130767.18" ] }, { "condition_key": "MedGen:C2676676", "conditions": [ { "db": "MedGen", "id": "C2676676", "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "submitters": 2, "scv_count": 2, "classifications": { "Uncertain significance": 2 }, "bands": [ "VUS" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2011-09-22", "2016-03-08" ], "scvs": [ "SCV000053571.3", "SCV000488367.3" ], "rcvs": [ "RCV000030979.7" ] } ], "different_conditions_only": false, "insufficient_submission_context": 2, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37399", "vcv": "VCV000037399.26", "genes": [ "BRCA1" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37399/", "analysis": { "official_aggregate_conflict": true, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 3, "scv_count": 3, "classifications": { "Benign": 1, "Likely benign": 2 }, "bands": [ "B/LB" ], "major_difference": false, "minor_label_difference": true, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2017-01-18", "2018-09-30", "2023-03-23" ], "scvs": [ "SCV000185390.7", "SCV000911276.1", "SCV003846094.1" ], "rcvs": [ "RCV000130521.11" ] }, { "condition_key": "MedGen:C2676676", "conditions": [ { "db": "MedGen", "id": "C2676676", "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "submitters": 3, "scv_count": 3, "classifications": { "Benign": 1, "Uncertain significance": 2 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2002-06-20", "2009-11-06", "2020-03-02" ], "scvs": [ "SCV000053572.3", "SCV000144033.1", "SCV004244133.1" ], "rcvs": [ "RCV000030980.11" ] } ], "different_conditions_only": false, "insufficient_submission_context": 3, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37400", "vcv": "VCV000037400.14", "genes": [ "BRCA1" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37400/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": false, "same_condition_comparisons": [ { "condition_key": "MedGen:C2676676", "conditions": [ { "db": "MedGen", "id": "C2676676", "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "submitters": 2, "scv_count": 2, "classifications": { "Likely pathogenic": 2 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2009-03-11", "2025-11-15" ], "scvs": [ "SCV000053573.3", "SCV007658009.2" ], "rcvs": [ "RCV000030981.10" ] } ], "different_conditions_only": false, "insufficient_submission_context": 1, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37401", "vcv": "VCV000037401.20", "genes": [ "BRCA1" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37401/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": false, "same_condition_comparisons": [ { "condition_key": "MedGen:C0677776", "conditions": [ { "db": "MedGen", "id": "C0677776", "name": "Hereditary breast ovarian cancer syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Pathogenic": 2 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2023-10-31", "2025-10-21" ], "scvs": [ "SCV000825711.6", "SCV004122469.1" ], "rcvs": [ "RCV000697117.20" ] }, { "condition_key": "MedGen:C2676676", "conditions": [ { "db": "MedGen", "id": "C2676676", "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "submitters": 4, "scv_count": 4, "classifications": { "Pathogenic": 4 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2006-05-05", "2015-10-02", "2016-09-08", "2019-05-28" ], "scvs": [ "SCV000144062.1", "SCV000299583.2", "SCV000325030.4", "SCV001140609.1" ], "rcvs": [ "RCV000111592.15" ] } ], "different_conditions_only": false, "insufficient_submission_context": 0, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37402", "vcv": "VCV000037402.33", "genes": [ "BRCA1" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37402/", "analysis": { "official_aggregate_conflict": true, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Likely benign": 2 }, "bands": [ "B/LB" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2019-11-19", "2023-03-02" ], "scvs": [ "SCV000217494.6", "SCV000688332.6" ], "rcvs": [ "RCV000166686.23" ] }, { "condition_key": "MedGen:C2676676", "conditions": [ { "db": "MedGen", "id": "C2676676", "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "submitters": 4, "scv_count": 4, "classifications": { "Likely Benign": 1, "Uncertain significance": 3 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2004-02-20", "2010-05-03", "2016-02-19", "2023-09-04" ], "scvs": [ "SCV000053575.4", "SCV000144426.1", "SCV000488132.3", "SCV004823696.1" ], "rcvs": [ "RCV000030983.21" ] } ], "different_conditions_only": false, "insufficient_submission_context": 3, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37403", "vcv": "VCV000037403.14", "genes": [ "BRCA1" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37403/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C2676676", "conditions": [ { "db": "MedGen", "id": "C2676676", "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "submitters": 3, "scv_count": 3, "classifications": { "Likely Benign": 1, "Likely benign": 1, "Uncertain significance": 1 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2009-02-05", "2023-06-09", "2023-07-19" ], "scvs": [ "SCV000053576.4", "SCV004018659.1", "SCV004833991.1" ], "rcvs": [ "RCV000030984.8" ] } ], "different_conditions_only": false, "insufficient_submission_context": 1, "differences_not_expressed_in_aggregate": true, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37404", "vcv": "VCV000037404.66", "genes": [ "BRCA1" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37404/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": false, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Pathogenic": 2 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2022-12-27", "2024-04-18" ], "scvs": [ "SCV000186898.9", "SCV000903751.3" ], "rcvs": [ "RCV000131843.19" ] }, { "condition_key": "MedGen:C0677776", "conditions": [ { "db": "MedGen", "id": "C0677776", "name": "Hereditary breast ovarian cancer syndrome" } ], "submitters": 5, "scv_count": 5, "classifications": { "Pathogenic": 5 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2014-01-31", "2016-05-20", "2019-01-17", "2021-11-16", "2025-12-02" ], "scvs": [ "SCV000075448.14", "SCV000587018.1", "SCV000698850.1", "SCV002026039.1", "SCV004848063.1" ], "rcvs": [ "RCV000047435.26" ] }, { "condition_key": "MedGen:C2676676", "conditions": [ { "db": "MedGen", "id": "C2676676", "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "submitters": 5, "scv_count": 5, "classifications": { "Pathogenic": 5 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2012-05-21", "2015-10-02", "2015-11-12", "2024-03-24", "2025-05-02" ], "scvs": [ "SCV000053577.5", "SCV000325042.4", "SCV000677633.3", "SCV004216940.2", "SCV006555706.1" ], "rcvs": [ "RCV000030985.29" ] }, { "condition_key": "MedGen:CN377757", "conditions": [ { "db": "MedGen", "id": "CN377757", "name": "BRCA1-related cancer predisposition" } ], "submitters": 2, "scv_count": 2, "classifications": { "Pathogenic": 2 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2024-06-09", "2024-06-11" ], "scvs": [ "SCV004101414.3", "SCV005428671.1" ], "rcvs": [ "RCV004566758.2" ] } ], "different_conditions_only": false, "insufficient_submission_context": 4, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37405", "vcv": "VCV000037405.20", "genes": [ "BRCA1" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37405/", "analysis": { "official_aggregate_conflict": true, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Likely benign": 1, "Uncertain significance": 1 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": true, "different_evaluation_dates": true, "evaluation_dates": [ "2021-05-19", "2023-09-04" ], "scvs": [ "SCV001339967.4", "SCV002538016.1" ], "rcvs": [ "RCV001176119.15" ] }, { "condition_key": "MedGen:C2676676", "conditions": [ { "db": "MedGen", "id": "C2676676", "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "submitters": 3, "scv_count": 3, "classifications": { "Likely Benign": 1, "Uncertain significance": 2 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2011-06-01", "2020-03-02", "2023-09-17" ], "scvs": [ "SCV000053578.3", "SCV004244191.1", "SCV004828697.1" ], "rcvs": [ "RCV000030986.15" ] } ], "different_conditions_only": false, "insufficient_submission_context": 1, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. 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Differences are not a clinical reassessment." } }, { "variation_id": "37715", "vcv": "VCV000037715.26", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37715/", "analysis": { "official_aggregate_conflict": true, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 3, "scv_count": 3, "classifications": { "Benign": 1, "Uncertain significance": 2 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2002-05-29", "2010-12-17", "2020-04-27" ], "scvs": [ "SCV000053901.4", "SCV000145913.1", "SCV002761800.1" ], "rcvs": [ "RCV000031296.9" ] } ], "different_conditions_only": false, "insufficient_submission_context": 2, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. 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Differences are not a clinical reassessment." } }, { "variation_id": "37717", "vcv": "VCV000037717.29", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37717/", "analysis": { "official_aggregate_conflict": true, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 3, "scv_count": 3, "classifications": { "Likely benign": 1, "Uncertain significance": 2 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2002-05-29", "2011-12-01", "2017-11-20" ], "scvs": [ "SCV000053903.3", "SCV000145989.1", "SCV000785751.3" ], "rcvs": [ "RCV000031298.9" ] } ], "different_conditions_only": false, "insufficient_submission_context": 5, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37718", "vcv": "VCV000037718.27", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37718/", "analysis": { "official_aggregate_conflict": true, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Likely benign": 1, "Uncertain significance": 1 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": true, "different_evaluation_dates": true, "evaluation_dates": [ "2018-01-03", "2025-06-10" ], "scvs": [ "SCV000274258.7", "SCV000911853.1" ], "rcvs": [ "RCV000220854.11" ] }, { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 2, "scv_count": 2, "classifications": { "Likely Benign": 1, "Likely benign": 1 }, "bands": [ "B/LB" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2009-04-15", "2023-10-02" ], "scvs": [ "SCV000053904.3", "SCV004846255.1" ], "rcvs": [ "RCV000031299.7" ] } ], "different_conditions_only": false, "insufficient_submission_context": 3, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37719", "vcv": "VCV000037719.38", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37719/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 4, "scv_count": 4, "classifications": { "Benign": 1, "Likely benign": 3 }, "bands": [ "B/LB" ], "major_difference": false, "minor_label_difference": true, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2014-11-19", "2015-06-08", "2016-02-04", "2021-02-03" ], "scvs": [ "SCV000213508.6", "SCV000267028.1", "SCV000683390.2", "SCV002533184.1" ], "rcvs": [ "RCV000163020.16" ] }, { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 6, "scv_count": 6, "classifications": { "Benign": 3, "Likely Benign": 1, "Likely benign": 1, "Uncertain significance": 1 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2002-05-29", "2008-01-08", "2015-08-10", "2019-05-28", "2023-12-01", "2025-11-12" ], "scvs": [ "SCV000053905.3", "SCV000145744.1", "SCV000244416.1", "SCV001139283.1", "SCV004846256.1", "SCV007602167.2" ], "rcvs": [ "RCV000031300.20" ] } ], "different_conditions_only": false, "insufficient_submission_context": 8, "differences_not_expressed_in_aggregate": true, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37720", "vcv": "VCV000037720.40", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37720/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 3, "scv_count": 3, "classifications": { "Benign": 1, "Likely benign": 2 }, "bands": [ "B/LB" ], "major_difference": false, "minor_label_difference": true, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2017-02-10", "2018-08-23", "2021-09-15" ], "scvs": [ "SCV000186738.7", "SCV000902875.1", "SCV002533189.1" ], "rcvs": [ "RCV000131701.16" ] }, { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 3, "scv_count": 3, "classifications": { "Benign": 1, "Likely benign": 1, "Uncertain significance": 1 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2000-06-12", "2012-02-01", "2015-02-05" ], "scvs": [ "SCV000053906.5", "SCV000145754.1", "SCV000221120.3" ], "rcvs": [ "RCV000031301.18" ] } ], "different_conditions_only": false, "insufficient_submission_context": 7, "differences_not_expressed_in_aggregate": true, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37721", "vcv": "VCV000037721.22", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37721/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": false, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Likely benign": 2 }, "bands": [ "B/LB" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2015-04-14", "2018-02-08" ], "scvs": [ "SCV000184971.7", "SCV000683396.2" ], "rcvs": [ "RCV000130138.9" ] }, { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 2, "scv_count": 2, "classifications": { "Benign": 2 }, "bands": [ "B/LB" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2009-08-18", "2014-11-03" ], "scvs": [ "SCV000053907.4", "SCV000196034.1" ], "rcvs": [ "RCV000031302.9" ] } ], "different_conditions_only": false, "insufficient_submission_context": 1, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37722", "vcv": "VCV000037722.61", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37722/", "analysis": { "official_aggregate_conflict": true, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 3, "scv_count": 3, "classifications": { "Benign": 2, "Likely benign": 1 }, "bands": [ "B/LB" ], "major_difference": false, "minor_label_difference": true, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2015-06-23", "2016-04-21", "2017-09-29" ], "scvs": [ "SCV000213215.6", "SCV000787915.1", "SCV000910750.1" ], "rcvs": [ "RCV000162743.7" ] }, { "condition_key": "MedGen:C0677776", "conditions": [ { "db": "MedGen", "id": "C0677776", "name": "Hereditary breast ovarian cancer syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Likely benign": 1, "Uncertain significance": 1 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": true, "different_evaluation_dates": true, "evaluation_dates": [ "2021-11-16", "2026-01-24" ], "scvs": [ "SCV000071735.15", "SCV002025889.1" ], "rcvs": [ "RCV001086927.14" ] }, { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 3, "scv_count": 3, "classifications": { "Benign": 2, "Uncertain significance": 1 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2002-05-29", "2012-03-29", "2023-08-15" ], "scvs": [ "SCV000053908.6", "SCV000145761.1", "SCV004846275.1" ], "rcvs": [ "RCV000031303.12" ] } ], "different_conditions_only": false, "insufficient_submission_context": 6, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37723", "vcv": "VCV000037723.60", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37723/", "analysis": { "official_aggregate_conflict": true, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C0677776", "conditions": [ { "db": "MedGen", "id": "C0677776", "name": "Hereditary breast ovarian cancer syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Likely benign": 1, "Uncertain significance": 1 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": true, "different_evaluation_dates": true, "evaluation_dates": [ "2024-06-19", "2025-02-17" ], "scvs": [ "SCV002321104.5", "SCV005848142.1" ], "rcvs": [ "RCV002054530.17" ] }, { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 2, "scv_count": 2, "classifications": { "Benign": 1, "Uncertain significance": 1 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2002-05-29", "2006-06-29" ], "scvs": [ "SCV000053909.3", "SCV000145764.1" ], "rcvs": [ "RCV000031304.17" ] } ], "different_conditions_only": false, "insufficient_submission_context": 3, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37724", "vcv": "VCV000037724.63", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37724/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": false, "same_condition_comparisons": [ { "condition_key": "MedGen:C0677776", "conditions": [ { "db": "MedGen", "id": "C0677776", "name": "Hereditary breast ovarian cancer syndrome" } ], "submitters": 4, "scv_count": 4, "classifications": { "Pathogenic": 4 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2014-01-31", "2016-04-18", "2017-04-20", "2025-08-31" ], "scvs": [ "SCV000587578.1", "SCV000588075.1", "SCV000694502.1", "SCV001581181.6" ], "rcvs": [ "RCV000496804.17" ] }, { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 7, "scv_count": 7, "classifications": { "Pathogenic": 7 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "1999-04-12", "2011-09-07", "2015-10-02", "2016-01-14", "2016-09-08", "2021-08-18", "2023-11-28" ], "scvs": [ "SCV000053910.3", "SCV000145808.1", "SCV000296578.2", "SCV000300382.2", "SCV000326485.4", "SCV001950105.1", "SCV004836101.1" ], "rcvs": [ "RCV000031305.20" ] } ], "different_conditions_only": false, "insufficient_submission_context": 4, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37725", "vcv": "VCV000037725.75", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37725/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": false, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Pathogenic": 2 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2020-01-15", "2024-12-03" ], "scvs": [ "SCV000185879.9", "SCV000903408.3" ], "rcvs": [ "RCV000130964.20" ] }, { "condition_key": "MedGen:C0677776", "conditions": [ { "db": "MedGen", "id": "C0677776", "name": "Hereditary breast ovarian cancer syndrome" } ], "submitters": 4, "scv_count": 4, "classifications": { "Pathogenic": 4 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2014-01-31", "2017-04-20", "2023-12-29", "2025-08-30" ], "scvs": [ "SCV000549801.12", "SCV000587579.1", "SCV000588076.1", "SCV004241760.1" ], "rcvs": [ "RCV000257966.25" ] }, { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 5, "scv_count": 5, "classifications": { "Likely pathogenic": 1, "Pathogenic": 4 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": true, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2008-11-20", "2015-10-02", "2016-09-08", "2016-12-23" ], "scvs": [ "SCV000053911.3", "SCV000145811.1", "SCV000300383.2", "SCV000326488.4", "SCV000677668.3" ], "rcvs": [ "RCV000031306.18" ] } ], "different_conditions_only": false, "insufficient_submission_context": 3, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37726", "vcv": "VCV000037726.27", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37726/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": false, "same_condition_comparisons": [ { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 3, "scv_count": 3, "classifications": { "Pathogenic": 3 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2008-01-22", "2015-10-02", "2016-09-08" ], "scvs": [ "SCV000053912.3", "SCV000300399.2", "SCV000326505.4" ], "rcvs": [ "RCV000031307.8" ] } ], "different_conditions_only": false, "insufficient_submission_context": 0, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37727", "vcv": "VCV000037727.53", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37727/", "analysis": { "official_aggregate_conflict": true, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 4, "scv_count": 4, "classifications": { "Benign": 1, "Likely benign": 2, "Uncertain significance": 1 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": true, "different_evaluation_dates": true, "evaluation_dates": [ "2016-09-14", "2019-03-08", "2021-08-10", "2023-03-23" ], "scvs": [ "SCV000661187.5", "SCV000903277.1", "SCV002533212.1", "SCV003849888.1" ], "rcvs": [ "RCV000571104.11" ] }, { "condition_key": "MedGen:C0677776", "conditions": [ { "db": "MedGen", "id": "C0677776", "name": "Hereditary breast ovarian cancer syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Likely benign": 2 }, "bands": [ "B/LB" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2021-11-16", "2026-01-01" ], "scvs": [ "SCV000252995.13", "SCV002026064.1" ], "rcvs": [ "RCV001085676.10" ] } ], "different_conditions_only": false, "insufficient_submission_context": 4, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37728", "vcv": "VCV000037728.3", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37728/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": false, "same_condition_comparisons": [ { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 3, "scv_count": 3, "classifications": { "Pathogenic": 3 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2002-05-29", "2012-05-01", "2015-10-02" ], "scvs": [ "SCV000053914.6", "SCV000145828.1", "SCV000326508.4" ], "rcvs": [ "RCV000031309.7" ] } ], "different_conditions_only": false, "insufficient_submission_context": 0, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37729", "vcv": "VCV000037729.16", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37729/", "analysis": { "official_aggregate_conflict": true, "same_condition_comparable": true, "same_condition_difference": true, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Likely benign": 1, "Uncertain significance": 1 }, "bands": [ "B/LB", "VUS" ], "major_difference": true, "minor_label_difference": false, "difference_among_contributing_submissions": true, "different_evaluation_dates": true, "evaluation_dates": [ "2023-03-23", "2025-12-21" ], "scvs": [ "SCV000665955.6", "SCV003849904.1" ], "rcvs": [ "RCV000571637.9" ] } ], "different_conditions_only": false, "insufficient_submission_context": 0, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37730", "vcv": "VCV000037730.30", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37730/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": false, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Pathogenic": 2 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2022-12-23", "2025-01-07" ], "scvs": [ "SCV000184114.8", "SCV006061498.1" ], "rcvs": [ "RCV000129350.16" ] }, { "condition_key": "MedGen:C0677776", "conditions": [ { "db": "MedGen", "id": "C0677776", "name": "Hereditary breast ovarian cancer syndrome" } ], "submitters": 4, "scv_count": 4, "classifications": { "Pathogenic": 4 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2014-01-31", "2017-01-19", "2018-07-13", "2024-11-15" ], "scvs": [ "SCV000587584.1", "SCV000694520.1", "SCV000829725.8", "SCV000966962.1" ], "rcvs": [ "RCV000496444.22" ] }, { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 4, "scv_count": 4, "classifications": { "Pathogenic": 4 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2008-03-11", "2015-10-02", "2016-09-08", "2018-10-08" ], "scvs": [ "SCV000053916.3", "SCV000300406.2", "SCV000326514.4", "SCV001434846.1" ], "rcvs": [ "RCV000031311.17" ] } ], "different_conditions_only": false, "insufficient_submission_context": 2, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37731", "vcv": "VCV000037731.40", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37731/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": false, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Pathogenic": 2 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2023-10-10", "2024-05-08" ], "scvs": [ "SCV000187038.9", "SCV000903392.5" ], "rcvs": [ "RCV000131980.22" ] }, { "condition_key": "MedGen:C0677776", "conditions": [ { "db": "MedGen", "id": "C0677776", "name": "Hereditary breast ovarian cancer syndrome" } ], "submitters": 3, "scv_count": 3, "classifications": { "Pathogenic": 3 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2014-01-31", "2023-02-14", "2025-10-09" ], "scvs": [ "SCV000587586.1", "SCV000694524.2", "SCV001590795.6" ], "rcvs": [ "RCV000496247.17" ] }, { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 5, "scv_count": 5, "classifications": { "Pathogenic": 5 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2002-05-29", "2014-01-06", "2015-10-02", "2016-04-22", "2025-03-13" ], "scvs": [ "SCV000053917.6", "SCV000145838.1", "SCV000282354.1", "SCV000326523.4", "SCV006277818.1" ], "rcvs": [ "RCV000031312.17" ] } ], "different_conditions_only": false, "insufficient_submission_context": 5, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37732", "vcv": "VCV000037732.5", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37732/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": false, "same_condition_comparisons": [ { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 3, "scv_count": 3, "classifications": { "Pathogenic": 3 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2011-08-06", "2015-10-02", "2016-09-08" ], "scvs": [ "SCV000053918.3", "SCV000300411.2", "SCV000326525.4" ], "rcvs": [ "RCV000031313.7" ] } ], "different_conditions_only": false, "insufficient_submission_context": 0, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } }, { "variation_id": "37733", "vcv": "VCV000037733.69", "genes": [ "BRCA2" ], "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/37733/", "analysis": { "official_aggregate_conflict": false, "same_condition_comparable": true, "same_condition_difference": false, "same_condition_comparisons": [ { "condition_key": "MedGen:C0027672", "conditions": [ { "db": "MedGen", "id": "C0027672", "name": "Hereditary cancer-predisposing syndrome" } ], "submitters": 2, "scv_count": 2, "classifications": { "Pathogenic": 2 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2020-06-01", "2024-08-05" ], "scvs": [ "SCV000185127.8", "SCV000683409.2" ], "rcvs": [ "RCV000130282.18" ] }, { "condition_key": "MedGen:C0677776", "conditions": [ { "db": "MedGen", "id": "C0677776", "name": "Hereditary breast ovarian cancer syndrome" } ], "submitters": 4, "scv_count": 4, "classifications": { "Pathogenic": 4 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2014-01-31", "2019-05-28", "2022-03-27", "2024-11-22" ], "scvs": [ "SCV000071781.17", "SCV000587587.1", "SCV000694526.2", "SCV004847741.1" ], "rcvs": [ "RCV000043768.31" ] }, { "condition_key": "MedGen:C2675520", "conditions": [ { "db": "MedGen", "id": "C2675520", "name": "Breast-ovarian cancer, familial, susceptibility to, 2" } ], "submitters": 5, "scv_count": 5, "classifications": { "Pathogenic": 5 }, "bands": [ "P/LP" ], "major_difference": false, "minor_label_difference": false, "difference_among_contributing_submissions": false, "different_evaluation_dates": true, "evaluation_dates": [ "2002-05-29", "2009-02-09", "2015-10-02", "2016-09-08", "2017-07-21" ], "scvs": [ "SCV000053919.4", "SCV000145841.1", "SCV000300412.2", "SCV000326527.4", "SCV000785374.3" ], "rcvs": [ "RCV000031314.17" ] } ], "different_conditions_only": false, "insufficient_submission_context": 2, "differences_not_expressed_in_aggregate": false, "meaning": "Observed classifications from current germline submissions, compared only for identical NCBI-mapped condition sets and independent submitter IDs. Differences are not a clinical reassessment." } } ], "findings": [ { "id": "GEE-001-Q1", "title": "Variant-level classification and conflict counts", "kind": "computational_result", "method": "Unique Variation IDs, germline VCV classification; explicit denominator for each ratio", "dataset": "GEE-001 frozen public-source sample", "result": { "classification_distribution": { "Benign": 8, "Benign/Likely benign": 3, "Conflicting classifications of pathogenicity": 12, "Likely benign": 2, "Pathogenic": 50, "Pathogenic/Likely pathogenic": 4, "Uncertain significance": 1 }, "official_conflicts": { "numerator": 12, "denominator": 80, "percent": 15.0 }, "same_condition_differences": { "numerator": 28, "denominator": 75, "percent": 37.333 } }, "evidence": [ "VCV000009317.14", "VCV000009318.118", "VCV000009319.55", "VCV000009320.121", "VCV000009322.176", "VCV000009324.5", "VCV000009325.172", "VCV000009326.91", "VCV000009328.55", "VCV000009329.101", "VCV000009339.8", "VCV000009340.65", "VCV000009342.129", "VCV000009343.12", "VCV000009344.24", "VCV000009345.25", "VCV000009346.23", "VCV000009347.48", "VCV000009348.26", "VCV000009349.57", "VCV000017660.43", "VCV000017661.165", "VCV000017662.188", "VCV000017665.62", "VCV000017666.29", "VCV000017667.55", "VCV000017669.37", "VCV000017670.129", "VCV000017675.112", "VCV000017676.78", "VCV000017677.176", "VCV000017679.4", "VCV000017681.112", "VCV000017682.36", "VCV000017683.57", "VCV000017685.62", "VCV000017690.4", "VCV000017693.124", "VCV000017694.52", "VCV000017695.16", "VCV000037386.26", "VCV000037387.30", "VCV000037388.28", "VCV000037389.31", "VCV000037390.29", "VCV000037391.26", "VCV000037392.73", "VCV000037393.26", "VCV000037394.3", "VCV000037395.3", "VCV000037396.3", "VCV000037397.3", "VCV000037398.31", "VCV000037399.26", "VCV000037400.14", "VCV000037401.20", "VCV000037402.33", "VCV000037403.14", "VCV000037404.66", "VCV000037405.20", "VCV000037714.45", "VCV000037715.26", "VCV000037716.11", "VCV000037717.29", "VCV000037718.27", "VCV000037719.38", "VCV000037720.40", "VCV000037721.22", "VCV000037722.61", "VCV000037723.60", "VCV000037724.63", "VCV000037725.75", "VCV000037726.27", "VCV000037727.53", "VCV000037728.3", "VCV000037729.16", "VCV000037730.30", "VCV000037731.40", "VCV000037732.5", "VCV000037733.69" ], "limits": "Deterministic lowest-ID sample, not random and not a population prevalence estimate." }, { "id": "GEE-001-Q2", "title": "Documented classification differences", "kind": "computational_result", "method": "Current germline SCVs, exact NCBI MedGen condition-set match, independent organization IDs; P/LP and B/LB grouped separately from VUS", "dataset": "GEE-001 frozen public-source sample", "result": { "example_accessions": [ "VCV000037388.28", "VCV000037398.31", "VCV000037399.26", "VCV000037402.33", "VCV000037405.20", "VCV000037715.26", "VCV000037717.29", "VCV000037718.27" ], "examples_found": 8 }, "evidence": [ "SCV000607932.6", "SCV000688313.4", "SCV003846214.1", "SCV000185660.9", "SCV000688321.5", "SCV003846107.1", "SCV000053572.3", "SCV000144033.1", "SCV004244133.1", "SCV000053575.4", "SCV000144426.1", "SCV000488132.3", "SCV004823696.1", "SCV000053578.3", "SCV001339967.4", "SCV002538016.1", "SCV004244191.1", "SCV004828697.1", "SCV000053901.4", "SCV000145913.1", "SCV002761800.1", "SCV000053903.3", "SCV000145989.1", "SCV000785751.3", "SCV000274258.7", "SCV000911853.1" ], "limits": "Current submission-level differences are not necessarily ClinVar aggregate conflicts; dates, review tiers and noncontributing submissions remain explicit." }, { "id": "GEE-001-Q3", "title": "Review status and documentary completeness", "kind": "computational_result", "method": "Count official review labels and available SCV metadata, without invented reliability score", "dataset": "GEE-001 frozen public-source sample", "result": { "review_distribution": { "criteria provided, conflicting classifications": 12, "criteria provided, multiple submitters, no conflicts": 11, "criteria provided, single submitter": 3, "no assertion criteria provided": 2, "reviewed by expert panel": 52 }, "criteria": { "numerator": 1287, "denominator": 1770, "percent": 72.712 }, "dates": { "numerator": 1606, "denominator": 1770, "percent": 90.734 }, "citations": { "numerator": 1112, "denominator": 1770, "percent": 62.825 } }, "evidence": [ "VCV000009317.14", "VCV000009318.118", "VCV000009319.55", "VCV000009320.121", "VCV000009322.176", "VCV000009324.5", "VCV000009325.172", "VCV000009326.91", "VCV000009328.55", "VCV000009329.101", "VCV000009339.8", "VCV000009340.65", "VCV000009342.129", "VCV000009343.12", "VCV000009344.24", "VCV000009345.25", "VCV000009346.23", "VCV000009347.48", "VCV000009348.26", "VCV000009349.57", "VCV000017660.43", "VCV000017661.165", "VCV000017662.188", "VCV000017665.62", "VCV000017666.29", "VCV000017667.55", "VCV000017669.37", "VCV000017670.129", "VCV000017675.112", "VCV000017676.78", "VCV000017677.176", "VCV000017679.4", "VCV000017681.112", "VCV000017682.36", "VCV000017683.57", "VCV000017685.62", "VCV000017690.4", "VCV000017693.124", "VCV000017694.52", "VCV000017695.16", "VCV000037386.26", "VCV000037387.30", "VCV000037388.28", "VCV000037389.31", "VCV000037390.29", "VCV000037391.26", "VCV000037392.73", "VCV000037393.26", "VCV000037394.3", "VCV000037395.3", "VCV000037396.3", "VCV000037397.3", "VCV000037398.31", "VCV000037399.26", "VCV000037400.14", "VCV000037401.20", "VCV000037402.33", "VCV000037403.14", "VCV000037404.66", "VCV000037405.20", "VCV000037714.45", "VCV000037715.26", "VCV000037716.11", "VCV000037717.29", "VCV000037718.27", "VCV000037719.38", "VCV000037720.40", "VCV000037721.22", "VCV000037722.61", "VCV000037723.60", "VCV000037724.63", "VCV000037725.75", "VCV000037726.27", "VCV000037727.53", "VCV000037728.3", "VCV000037729.16", "VCV000037730.30", "VCV000037731.40", "VCV000037732.5", "VCV000037733.69" ], "limits": "Declared criteria/review tier do not establish correctness; 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