ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1200G>A (p.Thr400=)

gnomAD frequency: 0.00003  dbSNP: rs532681917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997256 SCV001152477 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV001421295 SCV001623818 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-11-27 criteria provided, single submitter clinical testing

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