ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+48A>C

gnomAD frequency: 0.00004  dbSNP: rs757515975
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
Invitae RCV001402724 SCV001604575 likely benign Brugada syndrome 5 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000868191 SCV001934794 benign not provided 2015-04-17 criteria provided, single submitter 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.