ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2284+33C>G

gnomAD frequency: 0.39032  dbSNP: rs56680997
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
Genome-Nilou Lab RCV001579221 SCV001806674 benign Congenital myotonia, autosomal dominant form 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579222 SCV001806675 benign Congenital myotonia, autosomal recessive form 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001619989 SCV001846309 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619989 SCV005272716 benign not provided criteria provided, single submitter 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.