ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3717A>G (p.Lys1239=) (rs141196976)

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Total submissions: 8
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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) RCV000494995 SCV000579039 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/).
GeneDx RCV000430528 SCV000527161 likely benign not specified 2017-02-23 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000430528 SCV000591874 likely benign not specified 2014-04-10 criteria provided, single submitter clinical testing
Invitae RCV000548920 SCV000635302 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573734 SCV000661179 likely benign Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000430528 SCV000694712 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Counsyl RCV000494995 SCV000786472 likely benign Breast-ovarian cancer, familial 2 2018-05-15 criteria provided, single submitter clinical testing
Color RCV000573734 SCV000903461 likely benign Hereditary cancer-predisposing syndrome 2018-05-29 criteria provided, single submitter clinical testing

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