ClinVar Miner

Submissions for variant NM_003855.5(IL18R1):c.-29+1269C>T

gnomAD frequency: 0.31121  dbSNP: rs12999364
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, The First Affiliated Hospital of Chongqing Medical University RCV001250484 SCV001334436 association Behcet disease 2020-01-29 criteria provided, single submitter case-control
GeneDx RCV001683745 SCV001902172 benign not provided 2018-07-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28121058)

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.