ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4948C>A (p.Leu1650Ile)

dbSNP: rs1702008323
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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 RCV001847359 SCV002099484 pathogenic West syndrome; Developmental and epileptic encephalopathy 2022-02-16 no assertion criteria provided clinical testing

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