ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1008T>C (p.Asp336=)

dbSNP: rs876660706
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214806 SCV000278347 likely benign Hereditary cancer-predisposing syndrome 2015-09-13 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 RCV000214806 SCV001351088 likely benign Hereditary cancer-predisposing syndrome 2018-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001589159 SCV001826040 likely benign not provided 2019-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054995 SCV002479874 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2022-09-23 criteria provided, single submitter clinical testing

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