ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1662C>T (p.Gly554=)

gnomAD frequency: 0.00397  dbSNP: rs149971215
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
Invitae RCV000632906 SCV000754111 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263860 SCV002543237 benign Autoinflammatory syndrome 2019-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965318 SCV004781945 benign CARD14-related disorder 2024-01-12 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.