ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)

gnomAD frequency: 0.00015  dbSNP: rs185031797
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638251 SCV000759737 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-31 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714895 SCV000845645 uncertain significance Congenital myotonia, autosomal dominant form 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714896 SCV000845646 uncertain significance Congenital myotonia, autosomal recessive form 2018-08-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV002473080 SCV002771071 uncertain significance not provided 2021-08-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002473080 SCV003830701 uncertain significance not provided 2022-12-15 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.