ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.418del (p.Ser140fs)

dbSNP: rs2117011793
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001823315 SCV002072643 pathogenic Long QT syndrome 2 2021-09-24 criteria provided, single submitter clinical testing

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