ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1447+16A>G

gnomAD frequency: 0.00003  dbSNP: rs776280713
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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 RCV000582811 SCV000691401 likely benign Hereditary cancer-predisposing syndrome 2017-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002529282 SCV003453826 likely benign Juvenile polyposis syndrome 2023-05-23 criteria provided, single submitter clinical testing

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