ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe) (rs387907283)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000030753 SCV000053414 pathogenic Aortic valve disease 2 2012-04-01 no assertion criteria provided literature only

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