ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.633C>T (p.Val211=) (rs768731187)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573059 SCV000666173 likely benign Hereditary cancer-predisposing syndrome 2017-09-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495664 SCV000579038 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 0.04; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000758923 SCV000983997 likely benign not provided 2018-04-12 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 RCV000204082 SCV000260219 likely benign Hereditary breast and ovarian cancer syndrome 2016-11-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758923 SCV000887872 likely benign not provided 2017-11-17 criteria provided, single submitter clinical testing

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