ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) (rs398122702)

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Total submissions: 5
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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) RCV000077173 SCV001161550 pathogenic Breast-ovarian cancer, familial 1 2019-06-18 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 5 based on posterior probability = 0.999548
Counsyl RCV000077173 SCV000786565 uncertain significance Breast-ovarian cancer, familial 1 2018-05-31 criteria provided, single submitter clinical testing
Color Health, Inc RCV000774924 SCV000908976 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-06 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077173 SCV000108970 uncertain significance Breast-ovarian cancer, familial 1 2012-04-10 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000077173 SCV001242074 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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