ClinVar Miner

Variants in gene EVC

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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
187 199 674 1021 203 25 2084

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ellis-van Creveld syndrome; Curry-Hall syndrome 163 71 215 903 68 0 1398
Ellis-van Creveld syndrome 52 143 330 60 82 1 630
not provided 20 14 85 109 163 0 373
Inborn genetic diseases 0 0 186 18 0 0 204
not specified 1 0 52 59 41 0 147
EVC-related disorder 5 3 12 33 3 0 56
Curry-Hall syndrome 1 2 7 1 17 0 28
Ovarian serous cystadenocarcinoma 0 0 0 0 0 6 6
Sarcoma 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 4 4
Short-rib thoracic dysplasia 6 with or without polydactyly 4 4 0 0 0 0 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Gastric cancer 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
EVC-associated disorder 1 0 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Fetal anomalies with a likely genetic cause 1 0 0 0 0 0 1
Nephronophthisis 0 0 1 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 162 47 201 900 67 0 1377
Natera, Inc. 28 60 143 37 30 0 298
GeneDx 5 4 33 81 142 0 265
Illumina Laboratory Services, Illumina 0 0 152 24 62 0 238
Ambry Genetics 0 0 186 18 0 0 204
Breakthrough Genomics, Breakthrough Genomics 0 0 6 25 88 0 119
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 1 47 36 0 0 91
PreventionGenetics, part of Exact Sciences 5 3 10 41 31 0 90
Counsyl 6 35 35 1 0 0 77
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 10 21 20 0 54
Eurofins Ntd Llc (ga) 1 0 33 4 14 0 52
Fulgent Genetics, Fulgent Genetics 9 29 8 2 2 0 50
Myriad Genetics, Inc. 1 43 0 0 0 0 44
CeGaT Center for Human Genetics Tuebingen 5 2 6 22 2 0 37
Genome-Nilou Lab 0 3 6 3 17 0 29
Pars Genome Lab 0 0 0 1 28 0 29
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 24 24
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 10 3 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 12 0 13
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 11 0 12
Revvity Omics, Revvity 4 5 2 0 0 0 11
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 8 1 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 7 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 6 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 4 1 0 0 0 7
OMIM 6 0 1 0 0 0 7
Dan Cohn Lab, University Of California Los Angeles 6 0 0 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 0 6
3billion 5 0 0 0 0 0 5
Baylor Genetics 0 1 4 0 0 0 5
Dasa 4 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 1 1 1 1 0 4
Daryl Scott Lab, Baylor College of Medicine 1 0 2 0 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Cancer Diagnostics Division, Gene Solutions 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 1 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Department of Obstetrics and Gynecology, Women and Children’s Hospital Affiliated to Ningbo University 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 0 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1

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