ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4015A>G (p.Asn1339Asp)

dbSNP: rs2105373027
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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 RCV001847352 SCV002099472 pathogenic West syndrome; Early infantile epileptic encephalopathy with suppression bursts 2022-02-16 no assertion criteria provided clinical testing
Channelopathy-Associated Epilepsy Research Center RCV002319727 SCV002605487 not provided Complex neurodevelopmental disorder no assertion provided literature only

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