ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1605C>T (p.Asp535=)

dbSNP: rs56024614
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772265 SCV000905383 likely benign Hereditary cancer-predisposing syndrome 2018-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772265 SCV001172785 likely benign Hereditary cancer-predisposing syndrome 2018-11-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001397240 SCV001598985 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-05-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000772265 SCV002531362 likely benign Hereditary cancer-predisposing syndrome 2021-07-21 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004788165 SCV005405541 benign Familial cancer of breast 2024-08-28 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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