ClinVar Miner

List of variants in gene SCN8A reported as pathogenic for Global developmental delay; Developmental regression; Developmental stagnation at onset of seizures; Generalized tonic seizures; Intellectual disability, severe; Epileptic encephalopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
Download table as spreadsheet
NM_014191.4(SCN8A):c.800T>C (p.Leu267Ser) rs878853250

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.