ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.837T>C (p.His279=) (rs775477245)

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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) RCV000495040 SCV000578424 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/).
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240701 SCV000265875 uncertain significance Breast neoplasm 2015-11-01 criteria provided, single submitter research
Ambry Genetics RCV000223201 SCV000274044 likely benign Hereditary cancer-predisposing syndrome 2015-02-06 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 RCV000461630 SCV000560267 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506568 SCV000600441 uncertain significance not specified 2017-06-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000506568 SCV000916811 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Color Health, Inc RCV000223201 SCV001352919 likely benign Hereditary cancer-predisposing syndrome 2017-01-20 criteria provided, single submitter clinical testing

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