ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.512dup (p.Lys172fs) (rs398122793)

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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) RCV000077742 SCV000300329 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000214392 SCV000277465 pathogenic Hereditary cancer-predisposing syndrome 2015-07-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Sharing Clinical Reports Project (SCRP) RCV000077742 SCV000109545 pathogenic Breast-ovarian cancer, familial 2 2012-04-05 no assertion criteria provided clinical testing

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