ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1659C>T (p.Ser553=)

gnomAD frequency: 0.00036  dbSNP: rs139274935
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 RCV000632904 SCV000754109 likely benign Pityriasis rubra pilaris; Psoriasis 2 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263858 SCV002543711 likely benign Autoinflammatory syndrome 2021-02-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411499 SCV004146294 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing CARD14: BP4, BP7

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.