ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.42C>T (p.Val14=) (rs80356827)

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Total submissions: 10
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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 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: 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508611 SCV000605871 likely benign not specified 2017-02-20 criteria provided, single submitter clinical testing
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
Invitae RCV001083257 SCV000759425 benign Hereditary breast and ovarian cancer syndrome 2020-10-20 criteria provided, single submitter clinical testing
Counsyl RCV000144211 SCV000785881 likely benign Breast-ovarian cancer, familial 1 2017-12-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587087 SCV000888917 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Color Health, Inc RCV000163585 SCV000909429 likely benign Hereditary cancer-predisposing syndrome 2018-03-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000144211 SCV000189284 benign Breast-ovarian cancer, familial 1 2011-03-15 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000144211 SCV001237729 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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