ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu)

dbSNP: rs794726804
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180924 SCV000221903 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research

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