ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.69G>A (p.Leu23=)

dbSNP: rs2144400683
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002194940 SCV002358134 likely benign Juvenile polyposis syndrome 2021-04-16 criteria provided, single submitter clinical testing

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