ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8379A>G (p.Gly2793=) (rs1131692126)

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Total submissions: 3
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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) RCV000495304 SCV000578582 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/).
Ambry Genetics RCV000567640 SCV000661295 likely benign Hereditary cancer-predisposing syndrome 2016-04-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Invitae RCV000637966 SCV000759446 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-18 criteria provided, single submitter clinical testing

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