ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2343C>T (p.Gly781=)

gnomAD frequency: 0.00001  dbSNP: rs762082443
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
Counsyl RCV000668203 SCV000792767 uncertain significance Ellis-van Creveld syndrome 2017-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485545 SCV002776148 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-01-03 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.