ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.440_442TCT[1] (p.Phe148del) (rs397508126)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000239632 SCV000805128 pathogenic Long QT syndrome 1 2017-12-15 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000239632 SCV000255626 pathogenic Long QT syndrome 1 2012-01-01 no assertion criteria provided research

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