ClinVar Miner

Variants studied for Ellis-van Creveld syndrome

Coded as:
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Gene type:
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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
73 198 375 83 122 1 810

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EVC 35 94 255 56 83 0 496
EVC2 35 87 101 18 33 1 265
EVC2, LOC126806961 2 9 9 4 4 0 26
EVC, LOC129992144 1 8 4 0 0 0 12
EVC, EVC2 0 0 1 4 2 0 5
EVC, LOC129992148 0 0 1 1 0 0 2
CCDC39 0 0 1 0 0 0 1
EVC2, LOC126806962 0 0 1 0 0 0 1
TRAF3IP1 0 0 1 0 0 0 1
WDR35 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 248 50 101 0 398
Counsyl 16 80 54 2 0 0 152
Natera, Inc. 15 3 61 32 31 0 142
Myriad Genetics, Inc. 1 91 1 0 0 0 93
Genome-Nilou Lab 0 3 6 3 19 0 31
Pars Genome Lab 0 0 0 1 28 0 29
OMIM 16 0 1 0 0 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 2 0 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 4 2 0 0 0 11
Baylor Genetics 0 1 9 0 0 0 10
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 1 4 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 0 0 0 5
Dan Cohn Lab, University Of California Los Angeles 5 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 3 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 0 0 0 0 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 1 1 0 0 0 4
Labcorp Genetics (formerly Invitae), Labcorp 3 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 0 0 0 0 0 2
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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 1 0 2
3billion, Medical Genetics 1 0 0 1 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital 2 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 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
MNM Diagnostics 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 0 0 0 1 1

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