ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val)

dbSNP: rs794726801
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
Center for Bioinformatics, Peking University RCV000180919 SCV000221896 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV003480074 SCV004225958 likely pathogenic not provided 2023-05-15 criteria provided, single submitter clinical testing PP2, PP3, PM1, PM2, PM5, PS4_moderate

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.