ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.681+56C>T (rs2126042)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000114007 SCV000244988 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.07343 (Asian), 0.313 (African), 0.2018 (European), derived from 1000 genomes (2012-04-30).
Department of Pathology and Molecular Medicine,Queen's University RCV000496747 SCV000588069 benign not specified 2017-04-20 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496747 SCV000591706 benign not specified criteria provided, single submitter clinical testing
Color RCV000580071 SCV000683814 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing
GeneKor MSA RCV000496747 SCV000693627 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000114007 SCV000743249 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114007 SCV000147471 uncertain significance Breast-ovarian cancer, familial 2 1999-04-12 no assertion criteria provided clinical testing

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