ClinVar Miner

Submissions for variant NM_004750.5(CRLF1):c.713del (p.Pro238fs)

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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002285031 SCV002574836 pathogenic Cold-induced sweating syndrome 1 2022-09-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584964 SCV005074715 pathogenic not provided 2024-06-01 criteria provided, single submitter clinical testing CRLF1: PVS1, PM2, PM3:Supporting
Istanbul Faculty of Medicine, Istanbul University RCV002285031 SCV002499267 pathogenic Cold-induced sweating syndrome 1 2022-04-04 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.