ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.447C>G (p.Ala149=)

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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 RCV003533949 SCV004249487 likely benign Aortic valve disease 2 2023-11-24 criteria provided, single submitter clinical testing

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