ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.638dup (p.Arg214fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003136867 SCV003823935 uncertain significance Aortic valve disease 2 2021-04-02 criteria provided, single submitter clinical testing

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