ClinVar Miner

Variants in gene EVC

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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
179 158 548 987 204 1895

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Ellis-van Creveld syndrome; Curry-Hall syndrome 161 70 215 878 68 1372
Ellis-van Creveld syndrome 36 94 254 56 83 497
not provided 18 13 83 108 162 366
Inborn genetic diseases 0 0 119 11 0 130
not specified 0 0 39 42 41 115
EVC-related disorder 5 3 12 33 3 56
Curry-Hall syndrome 1 2 13 2 17 35
Short-rib thoracic dysplasia 6 with or without polydactyly 4 4 0 0 0 4
Nephronophthisis 0 0 1 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 160 47 202 874 67 1350
GeneDx 5 4 31 81 142 263
Illumina Laboratory Services, Illumina 0 0 158 25 64 247
Natera, Inc. 15 3 60 32 30 140
Ambry Genetics 0 0 119 11 0 130
Breakthrough Genomics, Breakthrough Genomics 0 0 6 25 88 119
PreventionGenetics, part of Exact Sciences 5 3 10 41 31 90
Counsyl 6 35 35 1 0 77
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 1 33 22 0 61
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 12 19 19 53
Eurofins Ntd Llc (ga) 1 0 33 4 14 52
Fulgent Genetics, Fulgent Genetics 9 29 8 2 2 50
Myriad Genetics, Inc. 0 42 0 0 0 42
CeGaT Center for Human Genetics Tuebingen 5 2 7 19 2 35
Genome-Nilou Lab 0 3 6 3 17 29
Pars Genome Lab 0 0 0 1 28 29
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 10 3 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 12 13
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 11 12
Revvity Omics, Revvity 4 5 2 0 0 11
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 8 1 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 7 8
OMIM 6 0 1 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 4 1 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 6 0 7
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 6
Dan Cohn Lab, University Of California Los Angeles 6 0 0 0 0 6
Baylor Genetics 0 1 4 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 1 1 1 3
Daryl Scott Lab, Baylor College of Medicine 1 0 2 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, 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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 1 0 0 0 2
Cancer Diagnostics Division, Gene Solutions 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Bionano Laboratories 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Blueprint Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 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 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 1
MNM Diagnostics 1 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 1
3billion 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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