ClinVar Miner

Submissions for variant NM_001199138.2(NLRC4):c.2668T>C (p.Cys890Arg)

gnomAD frequency: 0.00001  dbSNP: rs544969923
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 RCV000652415 SCV000774285 benign Periodic fever-infantile enterocolitis-autoinflammatory syndrome; Familial cold autoinflammatory syndrome 4 2024-01-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263917 SCV002542400 benign Autoinflammatory syndrome 2022-05-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708981 SCV005244082 benign not provided criteria provided, single submitter 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.