ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)

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Total submissions: 3
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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 RCV000770782 SCV000902247 likely pathogenic Generalized epilepsy with febrile seizures plus, type 2 2019-05-03 criteria provided, single submitter clinical testing Familial segregation
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004769 SCV001164249 uncertain significance Severe myoclonic epilepsy in infancy 2018-04-04 criteria provided, single submitter clinical testing
Invitae RCV001216747 SCV001388559 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-09-01 criteria provided, single submitter clinical testing

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