ClinVar Miner

Submissions for variant NM_001127217.2(SMAD9):c.204C>A (p.Cys68Ter) (rs146583835)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wendy Chung Laboratory,Columbia University Medical Center RCV000664174 SCV000784733 likely pathogenic Pulmonary arterial hypertension associated with congenital heart disease 2018-06-27 criteria provided, single submitter case-control

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