ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs)

dbSNP: rs2105430494
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001794530 SCV002032324 likely pathogenic Severe myoclonic epilepsy in infancy no assertion criteria provided clinical testing

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