ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.316+2T>C (rs81002805)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131849 SCV000186904 pathogenic Hereditary cancer-predisposing syndrome 2015-02-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion),Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759596 SCV000889017 pathogenic not provided 2018-04-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113397 SCV000146564 pathogenic Breast-ovarian cancer, familial 2 2002-06-20 no assertion criteria provided clinical testing

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