ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.689_690insG (p.Ile230fs)

dbSNP: rs1698732089
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001089691 SCV001245174 pathogenic Severe myoclonic epilepsy in infancy 2020-02-14 criteria provided, single submitter clinical testing

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