ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.688A>T (p.Lys230Ter) (rs80358913)

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Total submissions: 6
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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) RCV000031654 SCV000300346 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 RCV000221860 SCV000276328 pathogenic Hereditary cancer-predisposing syndrome 2016-07-05 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)
Department of Pathology and Molecular Medicine,Queen's University RCV000496274 SCV000588070 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-20 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031654 SCV000054261 pathogenic Breast-ovarian cancer, familial 2 2010-03-29 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031654 SCV000147491 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496274 SCV000587563 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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