ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.42C>T (p.Val14=)

dbSNP: rs80356827
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Total submissions: 11
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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) RCV000144211 SCV000578028 likely benign Breast-ovarian cancer, familial, susceptibility to, 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 RCV000163585 SCV000214145 likely benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000508611 SCV000699130 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083257 SCV000759425 benign Hereditary breast ovarian cancer syndrome 2024-11-22 criteria provided, single submitter clinical testing
Counsyl RCV000144211 SCV000785881 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587087 SCV000888917 likely benign not provided 2022-07-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163585 SCV000909429 likely benign Hereditary cancer-predisposing syndrome 2018-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000587087 SCV001848618 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30209399)
All of Us Research Program, National Institutes of Health RCV000144211 SCV004823707 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-10-30 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000144211 SCV000189284 benign Breast-ovarian cancer, familial, susceptibility to, 1 2011-03-15 no assertion criteria provided clinical testing
Brotman Baty Institute, University of Washington RCV000144211 SCV001237729 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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