ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.987G>A (p.Arg329=) (rs561002197)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575955 SCV000661182 likely benign Hereditary cancer-predisposing syndrome 2014-09-17 criteria provided, single submitter clinical testing
Color RCV000575955 SCV000684098 likely benign Hereditary cancer-predisposing syndrome 2017-04-24 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494749 SCV000578011 benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0016 (South Asian), derived from ExAC (2014-12-17).
GeneDx RCV000441878 SCV000526673 likely benign not specified 2017-05-02 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 RCV000204201 SCV000259525 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-28 criteria provided, single submitter clinical testing

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