ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.510G>A (p.Thr170=)

gnomAD frequency: 0.00003  dbSNP: rs121913209
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802943 SCV000942794 likely benign Immunodeficiency 28 2024-12-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000097449 SCV005195115 uncertain significance not provided criteria provided, single submitter not provided
Human Evolutionary Genetics, Institut Pasteur RCV000097449 SCV000121663 not provided not provided no assertion provided not provided

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.