ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.954C>T (p.Asp318=)

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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 RCV002929154 SCV003278507 likely benign Aortic valve disease 2 2022-03-13 criteria provided, single submitter clinical testing

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