ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter) (rs397514459)

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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 Bioinformatics, Peking University RCV000174714 SCV000221772 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174713 SCV000226067 pathogenic not provided 2014-05-19 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000174713 SCV001371160 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing

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