ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5221T>A (p.Cys1741Ser)

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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 RCV001004703 SCV001164166 likely pathogenic Generalized epilepsy with febrile seizures plus, type 2 2018-10-05 criteria provided, single submitter clinical testing

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