ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5028T>C (p.Ser1676=) (rs762458631)

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Total submissions: 6
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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) RCV000494762 SCV000579027 likely benign Breast-ovarian cancer, familial 2 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/).
Invitae RCV000197263 SCV000253021 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000440938 SCV000518466 likely benign not specified 2017-10-11 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.
Ambry Genetics RCV000565599 SCV000664992 likely benign Hereditary cancer-predisposing syndrome 2015-12-15 criteria provided, single submitter clinical testing
Color RCV000565599 SCV000683665 likely benign Hereditary cancer-predisposing syndrome 2017-03-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000440938 SCV000917013 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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