ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.956-7C>A

gnomAD frequency: 0.00001  dbSNP: rs778959035
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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 RCV001190005 SCV001357414 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859139 SCV002142899 likely benign Juvenile polyposis syndrome 2022-11-22 criteria provided, single submitter clinical testing

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