ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2739C>T (p.Asp913=) (rs276174829)

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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 RCV000162906 SCV000213393 likely benign Hereditary cancer-predisposing syndrome 2015-09-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113087 SCV000146103 benign Breast-ovarian cancer, familial 2 2010-12-17 no assertion criteria provided clinical testing
Color RCV000162906 SCV000683499 likely benign Hereditary cancer-predisposing syndrome 2016-10-31 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113087 SCV000578775 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 RCV000438287 SCV000512349 benign not specified 2015-07-02 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 RCV000205171 SCV000259543 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759591 SCV000889008 likely benign not provided 2018-05-05 criteria provided, single submitter clinical testing

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