ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3519T>C (p.Ser1173=)

dbSNP: rs1597863152
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000937750 SCV001083541 likely benign Hereditary breast ovarian cancer syndrome 2023-08-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001290610 SCV001478707 likely benign not specified 2021-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454139 SCV002613805 likely benign Hereditary cancer-predisposing syndrome 2021-07-02 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736940 SCV004562656 likely benign not provided 2023-09-21 criteria provided, single submitter clinical testing

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