ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3670A>T (p.Ile1224Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795668 SCV005417199 uncertain significance Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PP2

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