ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2785C>T (p.Leu929=)

dbSNP: rs1603276698
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016603 SCV001177569 likely benign Hereditary cancer-predisposing syndrome 2017-11-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001488657 SCV001693180 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-12-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001016603 SCV001734506 likely benign Hereditary cancer-predisposing syndrome 2021-01-26 criteria provided, single submitter clinical testing
GeneDx RCV002305558 SCV002599689 uncertain significance not provided 2022-11-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Myriad Genetics, Inc. RCV004789338 SCV005406992 benign Familial cancer of breast 2024-09-06 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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