ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.4508T>C (p.Leu1503Ser) (rs121918764)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517134 SCV000615036 uncertain significance not specified 2016-11-30 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059514 SCV000091044 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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.