ClinVar Miner

Variants in gene EVC2

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
220 177 633 1076 161 23 2102

Condition and significance breakdown #

Total conditions: 30
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ellis-van Creveld syndrome; Curry-Hall syndrome 199 88 415 961 73 0 1706
not provided 20 9 95 122 126 0 343
Ellis-van Creveld syndrome 39 90 98 19 33 1 267
Inborn genetic diseases 3 0 209 14 0 0 226
not specified 2 0 17 30 40 0 85
EVC2-related disorder 4 4 17 28 9 0 62
Curry-Hall syndrome 5 4 2 1 2 0 14
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 5 5
Jeune thoracic dystrophy 4 5 1 0 0 0 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 3 3
Type IV short rib polydactyly syndrome 1 3 1 0 0 0 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Meckel-Gruber syndrome 0 1 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Short-rib thoracic dysplasia 6 with or without polydactyly 1 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Tooth agenesis, selective, 2 0 0 1 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 62
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 199 44 408 956 73 0 1680
GeneDx 10 7 37 88 117 0 259
Ambry Genetics 3 0 209 14 0 0 226
Illumina Laboratory Services, Illumina 0 1 74 17 31 0 123
Breakthrough Genomics, Breakthrough Genomics 0 0 4 27 60 0 91
PreventionGenetics, part of Exact Sciences 4 4 17 34 25 0 84
Fulgent Genetics, Fulgent Genetics 12 48 12 6 1 0 79
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 0 15 27 29 0 77
Counsyl 8 42 17 1 0 0 68
CeGaT Center for Human Genetics Tuebingen 0 0 12 33 1 0 46
Eurofins Ntd Llc (ga) 3 0 19 10 11 0 43
Myriad Genetics, Inc. 3 38 1 0 0 0 42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 3 15 1 0 0 29
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 22 22
OMIM 13 0 0 0 0 0 13
Revvity Omics, Revvity 6 1 5 0 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 8 0 0 0 10
Dan Cohn Lab, University Of California Los Angeles 5 1 2 0 0 0 8
University of Washington Center for Mendelian Genomics, University of Washington 0 8 0 0 0 0 8
Baylor Genetics 1 0 4 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 2 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 4 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 1 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 0 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 4 0 0 4
Gharavi Laboratory, Columbia University 0 0 4 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 2 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 2 1 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Variantyx, Inc. 3 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Blueprint Genetics 0 1 1 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Dasa 2 0 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 1 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 1 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
3billion 0 0 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Natera, Inc. 0 0 0 0 1 0 1
Otogenetics 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 0 1
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital 1 0 0 0 0 0 1
Prenatal Diagnosis Unit, University Medical Center at Ho Chi Minh City, University of Medicine and Pharmacy at Ho Chi Minh City 0 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 1 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 0 0 0 1 1
Stomatology Center, Xiangya Hospital, Central South University 0 0 1 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.