ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3528A>C (p.Ile1176=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV003482216 SCV004228088 likely benign Hereditary cancer-predisposing syndrome 2023-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779219 SCV004576503 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003482216 SCV005029346 likely benign Hereditary cancer-predisposing syndrome 2023-09-21 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.

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