ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.380-20T>C

gnomAD frequency: 0.00001  dbSNP: rs748849028
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002147766 SCV002428976 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2022-05-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004793732 SCV005405232 likely benign Familial cancer of breast 2024-08-21 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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