ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.143_153dup (p.Gly52fs) (rs763462603)

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Total submissions: 3
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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 RCV000239665 SCV000863464 pathogenic Long QT syndrome 1 2018-07-11 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000239665 SCV000966187 likely pathogenic Long QT syndrome 1 2018-07-31 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000239665 SCV000255627 pathogenic Long QT syndrome 1 2012-01-01 no assertion criteria provided research

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