ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2979A>G (p.Lys993=) (rs772854836)

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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) RCV000495484 SCV000578359 likely benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000162569 SCV000212985 likely benign Hereditary cancer-predisposing syndrome 2014-07-02 criteria provided, single submitter clinical testing
GeneDx RCV000438122 SCV000529008 likely benign not specified 2017-03-15 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.
Color RCV000162569 SCV000683075 likely benign Hereditary cancer-predisposing syndrome 2016-12-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759513 SCV000888878 likely benign not provided 2018-05-10 criteria provided, single submitter clinical testing

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