ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs)

dbSNP: rs1559193213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000735399 SCV000854554 pathogenic Hypertelorism; Megalencephaly, autosomal dominant; Sudden death; Seizure; Febrile seizure (within the age range of 3 months to 6 years); Gliosis; Frontal bossing; Polymicrogyria; Abnormality of neuronal migration; Death in childhood; Hemimegalencephaly criteria provided, single submitter clinical testing
Center for Personalized Medicine, Children's Hospital Los Angeles RCV003156129 SCV003845266 pathogenic See cases 2022-12-21 criteria provided, single submitter clinical testing

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