ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser)

dbSNP: rs121918733
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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 RCV000059473 SCV000221899 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000332135 SCV000332932 likely pathogenic not provided 2015-07-15 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059473 SCV000090998 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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