ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5074+5A>T

gnomAD frequency: 0.00001  dbSNP: rs431825411
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697042 SCV000722312 likely benign not provided 2019-03-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23893897, 30209399, 21673748, 22505045)
Labcorp Genetics (formerly Invitae), Labcorp RCV000637385 SCV000758841 likely benign Hereditary breast ovarian cancer syndrome 2023-09-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000774933 SCV000908994 likely benign Hereditary cancer-predisposing syndrome 2018-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774933 SCV002643623 likely benign Hereditary cancer-predisposing syndrome 2020-03-19 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.
All of Us Research Program, National Institutes of Health RCV000083059 SCV004832349 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-08-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083059 SCV000115133 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2012-05-01 no assertion criteria provided clinical testing
Brotman Baty Institute, University of Washington RCV000083059 SCV001243469 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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