ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.628-16C>A

gnomAD frequency: 0.00003  dbSNP: rs770648312
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438312 SCV000512412 likely benign not specified 2017-07-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000580221 SCV000684295 likely benign Hereditary cancer-predisposing syndrome 2015-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061346 SCV002463067 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2025-01-30 criteria provided, single submitter clinical testing

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