ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.*1872del

dbSNP: rs878898132
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292010 SCV000417719 uncertain significance Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349000 SCV000417720 uncertain significance Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437055 SCV004147162 benign not provided 2022-10-01 criteria provided, single submitter clinical testing SCN1A: BS1, BS2

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.