ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.714G>A (p.Arg238=)

dbSNP: rs200376188
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000884999 SCV001028416 benign TNF receptor-associated periodic fever syndrome (TRAPS) 2024-01-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264047 SCV002543112 likely benign Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940516 SCV004749405 benign TNFRSF1A-related disorder 2019-05-08 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).
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000884999 SCV002029174 likely benign TNF receptor-associated periodic fever syndrome (TRAPS) 2021-11-18 no assertion criteria provided 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.