ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4399C>G (p.Leu1467Val)

dbSNP: rs2105384694
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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 RCV001847350 SCV002099469 pathogenic Developmental and epileptic encephalopathy 2022-02-16 no assertion criteria provided clinical testing

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