ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln)

dbSNP: rs794726854
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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 Bioinformatics, Peking University RCV000180987 SCV000221973 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Invitae RCV001035456 SCV001198783 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-08-24 criteria provided, single submitter clinical testing

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