ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.1061G>A (p.Cys354Tyr)

dbSNP: rs187262922
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003437702 SCV004149228 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing TMEM43: PM2
All of Us Research Program, National Institutes of Health RCV004011316 SCV004822004 uncertain significance Arrhythmogenic right ventricular dysplasia 5 2023-08-15 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.