ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu)

dbSNP: rs794726797
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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 Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000258942 SCV000328951 likely pathogenic Severe myoclonic epilepsy in infancy 2016-09-19 criteria provided, single submitter clinical testing

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