ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1287T>C (p.Asn429=)

dbSNP: rs863224431
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196759 SCV000253616 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001705154 SCV000529010 likely benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564301 SCV000668896 likely benign Hereditary cancer-predisposing syndrome 2016-04-26 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.
Color Diagnostics, LLC DBA Color Health RCV000564301 SCV000684123 likely benign Hereditary cancer-predisposing syndrome 2017-04-20 criteria provided, single submitter clinical testing

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