ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1253A>T (p.Asn418Ile)

dbSNP: rs1553568970
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurology Department, Shenzhen Children's Hospital RCV001847364 SCV002099494 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-02-16 no assertion criteria provided clinical testing

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