ClinVar Miner

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

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Total submissions: 8
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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) 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).
Invitae RCV001084499 SCV000259525 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000204201 SCV000526673 likely benign not provided 2018-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575955 SCV000661182 likely benign Hereditary cancer-predisposing syndrome 2014-09-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Health, Inc RCV000575955 SCV000684098 likely benign Hereditary cancer-predisposing syndrome 2017-04-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000204201 SCV001133993 benign not provided 2019-01-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000441878 SCV001337704 likely benign not specified 2020-01-25 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000204201 SCV001959953 likely benign not provided no assertion criteria provided clinical testing

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