ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.939+9C>T

gnomAD frequency: 0.00205  dbSNP: rs201282320
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500119 SCV000594606 likely benign not specified 2015-10-29 criteria provided, single submitter clinical testing
Invitae RCV000902045 SCV001046446 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810979 SCV001471714 benign not provided 2020-08-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001810979 SCV004147611 benign not provided 2022-08-01 criteria provided, single submitter clinical testing EVC: BS1, BS2
Natera, Inc. RCV001272632 SCV001454796 benign Ellis-van Creveld syndrome 2020-09-16 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.