ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2840del (p.Leu947fs) (rs431825300)

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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) RCV000082905 SCV000300567 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506075 SCV000600527 pathogenic not provided 2016-09-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082905 SCV000114979 pathogenic Breast-ovarian cancer, familial 2 2012-02-28 no assertion criteria provided clinical testing

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