ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.480T>C (p.Asp160=)

dbSNP: rs1599186813
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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 RCV001189093 SCV001356297 likely benign Hereditary cancer-predisposing syndrome 2020-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003763828 SCV004370430 likely benign Juvenile polyposis syndrome 2023-05-10 criteria provided, single submitter clinical testing

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