ClinVar Miner

Variants in gene EVC2

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
202 132 427 1011 156 1798

Condition and significance breakdown #

Total conditions: 12
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Ellis-van Creveld syndrome; Curry-Hall syndrome 184 45 287 918 70 1493
not provided 15 7 72 101 111 283
Ellis-van Creveld syndrome 28 85 100 17 33 255
not specified 2 0 7 27 37 69
Inborn genetic diseases 3 0 47 3 0 53
Curry-Hall syndrome 5 2 2 0 2 11
Jeune thoracic dystrophy 4 5 1 0 0 5
EVC2-related condition 1 1 2 0 0 4
Type IV short rib polydactyly syndrome 1 3 1 0 0 3
Meckel-Gruber syndrome 0 1 0 0 0 1
Short-rib thoracic dysplasia 6 with or without polydactyly 1 1 0 0 0 1
Tooth agenesis, selective, 2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 49
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 185 40 284 913 70 1492
GeneDx 6 6 21 86 114 233
Illumina Laboratory Services, Illumina 0 1 77 16 31 125
Counsyl 8 42 17 1 0 68
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 13 21 27 65
Ambry Genetics 3 0 47 3 0 53
Myriad Genetics, Inc. 1 37 1 0 0 39
Eurofins Ntd Llc (ga) 3 0 18 9 8 38
Fulgent Genetics, Fulgent Genetics 5 7 10 6 1 29
CeGaT Center for Human Genetics Tuebingen 0 0 6 17 4 27
Preventiongenetics, part of Exact Sciences 1 1 2 5 14 23
OMIM 13 0 0 0 0 13
Revvity Omics, Revvity Omics 6 0 4 0 0 10
University of Washington Center for Mendelian Genomics, University of Washington 0 8 0 0 0 8
Dan Cohn Lab, University Of California Los Angeles 5 1 2 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 5 0 0 6
Baylor Genetics 1 0 4 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 4 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 4 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 2 4
Gharavi Laboratory, Columbia University 0 0 4 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 2 1 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 2
Blueprint Genetics 0 1 1 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Natera, Inc. 0 0 0 0 1 1
Bionano Laboratories 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 1 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
DASA 1 0 0 0 0 1
Stomatology Center, Xiangya Hospital, Central South University 0 0 1 0 0 1
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital 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.