ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5691T>G (p.Asn1897Lys)

dbSNP: rs1689157351
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090358 SCV001245860 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262255 SCV001440055 uncertain significance Generalized epilepsy with febrile seizures plus, type 2 2019-01-01 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV001090358 SCV005198133 uncertain significance not provided 2024-01-23 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV002275267 SCV002562859 uncertain significance Seizure no assertion criteria provided clinical testing

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.