ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1443T>C (p.Ala481=)

dbSNP: rs1910483120
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002259279 SCV002538305 likely benign Hereditary cancer-predisposing syndrome 2022-01-30 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003095853 SCV002955314 likely benign Juvenile polyposis syndrome 2022-09-01 criteria provided, single submitter clinical testing

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