ClinVar Miner

Submissions for variant NM_024589.2(ROGDI):c.713G>A (p.Arg238His) (rs138409264)

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
Athena Diagnostics Inc RCV000427626 SCV000843501 benign not provided 2017-09-27 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000427626 SCV000510816 likely benign not provided 2016-10-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000389190 SCV000733502 likely benign Kohlschutter's syndrome no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389190 SCV000397134 uncertain significance Kohlschutter's syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000389190 SCV000561646 benign Kohlschutter's syndrome 2017-12-13 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.