ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)

gnomAD frequency: 0.00089  dbSNP: rs71318369
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490413 SCV000267256 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11 2016-03-18 criteria provided, single submitter reference population
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514822 SCV000610985 uncertain significance not provided 2017-07-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765717 SCV000897079 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2018-10-31 criteria provided, single submitter clinical testing
Mendelics RCV000201836 SCV001136653 uncertain significance Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2019-05-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000201836 SCV001528192 uncertain significance Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2018-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000514822 SCV002375143 likely benign not provided 2021-12-02 criteria provided, single submitter clinical testing
OMIM RCV000009605 SCV000029823 risk factor Epilepsy, juvenile myoclonic 8 2009-03-01 no assertion criteria provided literature only
GeneReviews RCV000201836 SCV000256564 uncertain significance Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2015-09-09 no assertion criteria provided literature only
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000514822 SCV001970269 uncertain significance not provided 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.