ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2648G>A (p.Arg883His)

gnomAD frequency: 0.00267  dbSNP: rs2289541
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 RCV000539791 SCV000629243 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001613341 SCV001833975 benign not provided 2018-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32199921)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263752 SCV002543283 benign Autoinflammatory syndrome 2022-03-11 criteria provided, single submitter clinical testing

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.