ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.640G>C (p.Gly214Arg)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHU Sainte-Justine Research Center, University of Montreal RCV002790050 SCV003761491 likely pathogenic Autosomal recessive Robinow syndrome 2022-01-04 criteria provided, single submitter clinical testing Compound heterozygous with NM_004560.3:c.1856G>A

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.