ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2020_2023del (p.Asp674fs)

dbSNP: rs1553544470
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000585813 SCV000693808 likely pathogenic Severe myoclonic epilepsy in infancy 2018-01-01 criteria provided, single submitter clinical testing

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