ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4767A>G (p.Pro1589=) (rs755818549)

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Total submissions: 7
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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) RCV000495385 SCV000578662 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 RCV000164642 SCV000215306 likely benign Hereditary cancer-predisposing syndrome 2014-05-27 criteria provided, single submitter clinical testing
Invitae RCV001081734 SCV000253019 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000431772 SCV000512363 likely benign not specified 2017-01-18 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 RCV000164642 SCV000683652 likely benign Hereditary cancer-predisposing syndrome 2016-12-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000431772 SCV000918857 likely benign not specified 2019-09-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000198938 SCV001133810 likely benign not provided 2018-12-04 criteria provided, single submitter clinical testing

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