ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.933C>T (p.Ile311=)

dbSNP: rs759718572
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000976559 SCV001124463 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-07-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432979 SCV004147609 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing EVC: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003432979 SCV005256692 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276228 SCV001462223 likely benign Ellis-van Creveld syndrome 2020-04-21 no assertion criteria provided 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.