ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2664T>C (p.His888=)

dbSNP: rs2144115975
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001458550 SCV001662373 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2020-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003382591 SCV004098115 likely benign Hereditary cancer-predisposing syndrome 2023-07-04 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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