ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2082T>C (p.Asn694=) (rs777141329)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218810 SCV000275022 likely benign Hereditary cancer-predisposing syndrome 2015-04-08 criteria provided, single submitter clinical testing
Color RCV000218810 SCV000688741 likely benign Hereditary cancer-predisposing syndrome 2017-08-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000431127 SCV000591788 likely benign not specified 2014-05-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495082 SCV000578985 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 RCV000431127 SCV000518173 likely benign not specified 2017-07-31 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.
Invitae RCV000467541 SCV000560425 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759588 SCV000889001 likely benign not provided 2018-02-07 criteria provided, single submitter clinical testing

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