ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.905-19_905-17del

dbSNP: rs746847153
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483910 SCV000565583 likely benign not specified 2016-03-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000579726 SCV000686564 likely benign Hereditary cancer-predisposing syndrome 2017-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056739 SCV002366294 likely benign Juvenile polyposis syndrome 2025-01-07 criteria provided, single submitter clinical testing

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