ClinVar Miner

Variants studied for Ellis-van Creveld syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
49 85 183 95 92 457

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EVC 23 40 90 77 56 269
EVC2 26 45 89 14 33 180
EVC, EVC2 0 0 1 4 3 5
CCDC39 0 0 1 0 0 1
TRAF3IP1 0 0 1 0 0 1
WDR35 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 108 89 54 250
Counsyl 17 80 55 2 0 154
Invitae 13 3 15 7 45 83
OMIM 15 0 1 0 0 16
Fulgent Genetics 2 1 3 0 0 6
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 1 4 0 0 6
Dan Cohn Lab,University Of California Los Angeles 5 0 0 0 0 5
Baylor Miraca Genetics Laboratories, 0 0 2 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 1

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.