ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1789G>A (p.Glu597Lys) (rs55650082)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162685 SCV000213139 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034728 SCV000043180 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA1) RCV000077495 SCV000144184 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000162685 SCV000682984 likely benign Hereditary cancer-predisposing syndrome 2015-07-17 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077495 SCV000244307 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 = 0.0000000000692
GeneDx RCV000074567 SCV000108652 likely benign not specified 2018-02-18 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.
Integrated Genetics/Laboratory Corporation of America RCV000034728 SCV000698862 likely benign not provided 2017-03-16 criteria provided, single submitter clinical testing
Invitae RCV000047583 SCV000075596 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
Pathway Genomics RCV000077495 SCV000207339 likely benign Breast-ovarian cancer, familial 1 2014-11-06 no assertion criteria provided clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034728 SCV000888847 likely benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077495 SCV000109293 likely benign Breast-ovarian cancer, familial 1 2008-11-20 no assertion criteria provided clinical testing

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