ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.633T>C (p.Pro211=)

dbSNP: rs1603347066
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025155 SCV001187290 likely benign Hereditary cancer-predisposing syndrome 2018-02-21 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 RCV001025155 SCV001346580 likely benign Hereditary cancer-predisposing syndrome 2019-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001433012 SCV001635795 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-08-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001025155 SCV002533734 likely benign Hereditary cancer-predisposing syndrome 2021-12-23 criteria provided, single submitter curation

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