ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.904+7T>G

gnomAD frequency: 0.00001  dbSNP: rs1207550894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533558 SCV000632809 likely benign Juvenile polyposis syndrome 2024-10-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777167 SCV000912858 likely benign Hereditary cancer-predisposing syndrome 2018-01-01 criteria provided, single submitter clinical testing

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