ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.182C>G (p.Ala61Gly)

dbSNP: rs864321650
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytogenetics- Mohapatra Lab, Banaras Hindu University RCV000203543 SCV000258907 pathogenic Congenital heart disease 2013-04-24 no assertion criteria provided case-control Ventricular septal defect with coarctation of aorta

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