ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.828A>G (p.Thr276=) (rs186274774)

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Total submissions: 7
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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) RCV000495039 SCV000578378 likely benign Breast-ovarian cancer, familial 1 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 RCV000163549 SCV000214107 likely benign Hereditary cancer-predisposing syndrome 2015-01-28 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.
Invitae RCV001081159 SCV000260415 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000474833 SCV000540976 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758851 SCV000887738 benign not provided 2018-09-24 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163549 SCV000911211 likely benign Hereditary cancer-predisposing syndrome 2016-04-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001201292 SCV001372419 likely benign not specified 2020-06-08 criteria provided, single submitter clinical testing

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