ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)

dbSNP: rs1573947939
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001375625 SCV001572547 likely pathogenic Severe myoclonic epilepsy in infancy 2021-04-25 criteria provided, single submitter clinical testing

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