ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8904C>T (p.Thr2968=) (rs41293519)

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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) RCV000495458 SCV000578983 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/).
Invitae RCV000590113 SCV000260799 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000220268 SCV000275117 likely benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000426343 SCV000525990 likely benign not specified 2017-07-05 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 RCV000220268 SCV000689158 likely benign Hereditary cancer-predisposing syndrome 2017-09-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590113 SCV000695190 likely benign not provided 2016-04-06 criteria provided, single submitter clinical testing

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