ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2596-9G>T

gnomAD frequency: 0.00010  dbSNP: rs200308662
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000875243 SCV001017538 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV001809867 SCV002056104 likely benign not provided 2021-12-27 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Has not been previously published as pathogenic or benign to our knowledge

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.