ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1909G>T (p.Glu637Ter)

dbSNP: rs199472968
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV001254732 SCV001430812 pathogenic Long QT syndrome 2019-04-02 no assertion criteria provided research This variant has been identified as part of our research program. Refer to the 'condition' field for the phenotype of the proband identified with this variant. For further information please feel free to contact us.

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