ClinVar Miner

List of variants reported as likely benign for Ellis-van Creveld syndrome by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
Download table as spreadsheet
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780
NM_153717.3(EVC):c.1464+20T>C rs886038740

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.