ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.143C>G (p.Pro48Arg)

gnomAD frequency: 0.00618  dbSNP: rs115661422
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514447 SCV000609618 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV000514447 SCV001021631 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneReviews RCV000201833 SCV000256558 not provided Leukoencephalopathy with mild cerebellar ataxia and white matter edema no assertion provided literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000514447 SCV001798377 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727632 SCV001970736 benign not specified no assertion criteria provided 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.