ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5558A>G (p.His1853Arg)

dbSNP: rs2105403389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurology Department, Shenzhen Children's Hospital RCV001847353 SCV002099473 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-02-16 no assertion criteria provided clinical testing
Neurology Department, Shenzhen Children's Hospital RCV001847354 SCV002099511 pathogenic West syndrome; Early infantile epileptic encephalopathy with suppression bursts 2022-02-16 no assertion criteria provided clinical testing

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