ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.205+6T>C

dbSNP: rs1555618360
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772601 SCV000905781 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001054796 SCV001219147 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-05-15 criteria provided, single submitter clinical testing
GeneDx RCV004760771 SCV005372826 uncertain significance not provided 2023-07-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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