ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2862_2863dup (p.Thr955fs)

dbSNP: rs2468095855
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV002284141 SCV002573448 pathogenic Severe myoclonic epilepsy in infancy 2018-11-01 criteria provided, single submitter clinical testing

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