ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6937+847T>G (rs9567576)

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Total submissions: 5
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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) RCV000191656 SCV000245055 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 0.3829 (Asian), 0.1728 (African), 0.2942 (European), derived from 1000 genomes (2012-04-30).
PreventionGenetics,PreventionGenetics RCV000247498 SCV000301773 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000247498 SCV000602779 benign not specified 2016-09-13 criteria provided, single submitter clinical testing
Color RCV000579505 SCV000683830 benign Hereditary cancer-predisposing syndrome 2014-12-06 criteria provided, single submitter clinical testing
Invitae RCV000860562 SCV001000647 benign not provided 2016-03-30 criteria provided, single submitter clinical testing

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