ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=)

gnomAD frequency: 0.00001  dbSNP: rs1250691798
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574391 SCV000661139 likely benign Hereditary cancer-predisposing syndrome 2017-07-10 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.
Color Diagnostics, LLC DBA Color Health RCV000574391 SCV000688486 likely benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000688632 SCV000816254 likely benign Hereditary breast ovarian cancer syndrome 2024-12-28 criteria provided, single submitter clinical testing
Mendelics RCV000989885 SCV001140527 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000574391 SCV002538288 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-16 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005000234 SCV002774455 likely benign not specified 2024-08-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005000234 SCV005883103 likely benign not specified 2024-12-06 criteria provided, single submitter clinical testing

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