ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6030C>T (p.Val2010=) (rs786201328)

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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) RCV000495346 SCV000578788 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 RCV000163392 SCV000213932 likely benign Hereditary cancer-predisposing syndrome 2015-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000444790 SCV000520573 likely benign not specified 2015-11-03 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 RCV000534486 SCV000635488 likely benign not provided 2018-08-05 criteria provided, single submitter clinical testing
Color RCV000163392 SCV000688961 likely benign Hereditary cancer-predisposing syndrome 2017-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000534486 SCV001133849 likely benign not provided 2018-10-27 criteria provided, single submitter clinical testing

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