ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) (rs117134265)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732649 SCV000860625 likely benign not specified 2018-04-17 criteria provided, single submitter clinical testing
Cirak Lab,University Hospital Cologne RCV000855500 SCV000996630 likely pathogenic Fetal akinesia sequence; Arthrogryposis multiplex congenita 2019-06-28 criteria provided, single submitter research
Invitae RCV000903196 SCV001047652 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001310261 SCV001499871 likely pathogenic Short stature 2021-01-31 no assertion criteria provided curation

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.