ClinVar Miner

Variants in gene EVC

See also:
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
28 43 133 92 69 332

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Ellis-van Creveld Syndrome 3 0 45 75 44 167
Curry-Hall syndrome 1 0 45 75 43 164
Chondroectodermal dysplasia 17 39 37 1 0 90
not specified 0 0 4 24 40 62
not provided 5 5 41 5 4 60
Chondroectodermal dysplasia; Curry-Hall syndrome 4 2 9 3 17 34
Short rib-polydactyly syndrome, Majewski type 4 0 0 0 0 4
EVC-Related Disorders 0 0 3 0 0 3
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 50 75 44 169
Counsyl 7 36 35 1 0 79
GeneDx 3 4 5 15 31 58
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 34 4 14 53
Invitae 7 2 8 3 17 37
PreventionGenetics 0 0 0 8 28 36
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 4 4 6 15
OMIM 6 0 1 0 0 7
Dan Cohn Lab,University Of California Los Angeles 6 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 2 1 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 1 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 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.