ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1354C>A (p.Leu452Ile) (rs80358424)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561047 SCV000665329 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000112911 SCV000145857 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000561047 SCV000906886 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112911 SCV000244420 benign Breast-ovarian cancer, familial 2 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0003
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496565 SCV000587593 uncertain significance not specified 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000112911 SCV000297503 uncertain significance Breast-ovarian cancer, familial 2 2010-11-18 no assertion criteria provided clinical testing

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