ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5973T>G (p.Ala1991=) (rs876660687)

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Total submissions: 5
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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) RCV000494831 SCV000578864 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 RCV000216889 SCV000278319 likely benign Hereditary cancer-predisposing syndrome 2015-09-03 criteria provided, single submitter clinical testing
Invitae RCV000534856 SCV000635485 likely benign Hereditary breast and ovarian cancer syndrome 2017-05-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587022 SCV000694922 uncertain significance not provided 2016-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000587022 SCV000982871 likely benign not provided 2018-03-23 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.

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