ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4610T>C (p.Ile1537Thr)

dbSNP: rs1553463038
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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 RCV001847370 SCV002099508 pathogenic Benign familial infantile epilepsy 2022-02-16 no assertion criteria provided clinical testing
Channelopathy-Associated Epilepsy Research Center RCV003483838 SCV004232406 not provided Complex neurodevelopmental disorder no assertion provided literature only

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