ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.455-8C>T

dbSNP: rs1057520412
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429769 SCV000515382 likely benign not specified 2017-08-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000874678 SCV001016885 likely benign Juvenile polyposis syndrome 2024-09-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185750 SCV001352018 likely benign Hereditary cancer-predisposing syndrome 2023-03-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001185750 SCV002538325 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-21 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003996003 SCV004818050 likely benign Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2023-11-30 criteria provided, single submitter clinical testing

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