ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4698T>G (p.Ser1566=)

dbSNP: rs1246456207
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759544 SCV000888924 uncertain significance not provided 2017-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001462491 SCV001666408 likely benign Hereditary breast ovarian cancer syndrome 2023-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000759544 SCV001866267 benign not provided 2015-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334423 SCV002637832 likely benign Hereditary cancer-predisposing syndrome 2020-01-02 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 RCV003999903 SCV004832363 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-08-28 criteria provided, single submitter clinical testing

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