ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.561T>C (p.Val187=)

dbSNP: rs786201596
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163944 SCV000214541 likely benign Hereditary cancer-predisposing syndrome 2014-02-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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