ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2739T>C (p.Ser913=)

dbSNP: rs878855147
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233193 SCV000291022 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-11-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000772340 SCV000905513 likely benign Hereditary cancer-predisposing syndrome 2018-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772340 SCV002747489 likely benign Hereditary cancer-predisposing syndrome 2020-08-31 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.
PreventionGenetics, part of Exact Sciences RCV004532966 SCV004713788 likely benign BRIP1-related disorder 2021-09-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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