ClinVar Miner

Submissions for variant NM_005857.5(ZMPSTE24):c.474+83A>C

gnomAD frequency: 0.02253  dbSNP: rs75470795
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
GeneDx RCV000128741 SCV001770167 likely benign not provided 2020-01-06 criteria provided, single submitter clinical testing
ZMPSTE24 homepage - Leiden Muscular Dystrophy pages RCV000128741 SCV000172381 not provided not provided no assertion provided not provided

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.