ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys)

dbSNP: rs121918623
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
Mendelics RCV002247463 SCV002517401 likely pathogenic Generalized epilepsy with febrile seizures plus, type 2 2022-05-04 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059470 SCV000090995 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.