ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) (rs794726759)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180873 SCV000221842 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090360 SCV001245864 pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001580464 SCV001810214 pathogenic Generalized epilepsy with febrile seizures plus, type 2 2021-07-22 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000180873 SCV001364269 pathogenic Severe myoclonic epilepsy in infancy 2020-02-19 no assertion criteria provided clinical testing

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