ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.788-16G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003463547 SCV004204858 uncertain significance Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2023-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005100229 SCV005843918 likely benign Juvenile polyposis syndrome 2024-12-12 criteria provided, single submitter clinical testing

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