ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2258-18T>G

gnomAD frequency: 0.00001  dbSNP: rs544273704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583838 SCV000689327 likely benign Hereditary cancer-predisposing syndrome 2016-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061780 SCV002349962 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-11-03 criteria provided, single submitter clinical testing

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