ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.885C>T (p.His295=) (rs752378780)

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
PreventionGenetics,PreventionGenetics RCV000248725 SCV000316139 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000664791 SCV000788806 likely benign Ellis-van Creveld syndrome 2016-12-16 criteria provided, single submitter clinical testing
Invitae RCV000941060 SCV001086939 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 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.