ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu)

dbSNP: rs121917950
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000059442 SCV001136015 pathogenic Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059442 SCV000090967 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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