ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1337del (p.Gln446fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003130927 SCV003808051 likely pathogenic Severe myoclonic epilepsy in infancy 2022-03-03 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2

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