ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.463C>G (p.Gln155Glu) (rs80357180)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162968 SCV000213456 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083209 SCV000145590 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000162968 SCV000903496 benign Hereditary cancer-predisposing syndrome 2016-08-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000433057 SCV000591272 benign not specified 2014-10-09 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000083209 SCV000244366 benign Breast-ovarian cancer, familial 1 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 = 0.0000389
GeneDx RCV000433057 SCV000516831 likely benign not specified 2017-01-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000048614 SCV000076627 benign Hereditary breast and ovarian cancer syndrome 2017-12-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758835 SCV000887704 benign not provided 2018-04-07 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083209 SCV000115283 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing

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