ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs)

dbSNP: rs587782930
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut RCV000144178 SCV000188642 pathogenic Atrial septal defect 7 2014-01-01 no assertion criteria provided research Sudden cardiac death risk with previously attributed Familial Atrial Septal defect Secundum type with progressive atrioventricular block

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