ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1452A>G (p.Val484=) (rs753601570)

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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) RCV000495288 SCV000579163 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 RCV000163608 SCV000214173 likely benign Hereditary cancer-predisposing syndrome 2013-11-23 criteria provided, single submitter clinical testing
Color RCV000163608 SCV000683425 likely benign Hereditary cancer-predisposing syndrome 2017-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000606726 SCV000728518 likely benign not specified 2017-11-02 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 RCV000637926 SCV000759406 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-08 criteria provided, single submitter clinical testing

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