ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6012A>G (p.Glu2004=) (rs572976024)

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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) RCV000495781 SCV000579144 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 RCV000163589 SCV000214149 likely benign Hereditary cancer-predisposing syndrome 2015-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000434904 SCV000521331 likely benign not specified 2016-12-19 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 RCV000163589 SCV000683749 likely benign Hereditary cancer-predisposing syndrome 2017-05-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000434904 SCV000694926 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Invitae RCV000637946 SCV000759426 likely benign not provided 2019-01-16 criteria provided, single submitter clinical testing

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