ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6937+736A>T

gnomAD frequency: 0.20819  dbSNP: rs4942443
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Total submissions: 3
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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) RCV000191655 SCV000245054 benign Breast-ovarian cancer, familial, susceptibility to, 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), 0.3049 (African), 0.2018 (European), derived from 1000 genomes (2012-04-30).
PreventionGenetics, part of Exact Sciences RCV000242912 SCV000301772 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001539653 SCV001757450 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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