ClinVar Miner

Variants studied for Ellis-van Creveld syndrome

Included ClinVar conditions (2):
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
422 378 1046 1987 197 2 3779

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EVC2 212 159 480 976 75 1 1808
EVC 181 188 497 925 111 1 1759
EVC2, LOC126806961 11 16 48 66 11 0 142
EVC, LOC129992144 6 13 11 7 0 0 33
EVC2, LOC126806962 0 1 5 12 0 0 18
EVC, EVC2 9 0 1 0 0 0 10
EVC, LOC129992148 0 0 1 1 0 0 2
WDR35 0 1 1 0 0 0 2
ADD1, ADRA2C, CYTL1, DOK7, EVC2, FAM193A, GRK4, HAUS3, HGFAC, HTT, LINC01587, LRPAP1, LYAR, MSANTD1, MSX1, MXD4, NOP14, NSG1, OTOP1, POLN, RGS12, RNF4, SH3BP2, SLC75A1, STK32B, STX18, TMEM128, TNIP2, ZBTB49, ZFYVE28 1 0 0 0 0 0 1
CCDC39 0 0 1 0 0 0 1
EVC, EVC2, LOC129992141, LOC129992142, LOC129992143, LOC129992144, LOC129992145, LOC129992146, LOC129992147 1 0 0 0 0 0 1
EVC2, LINC01587, STK32B 1 0 0 0 0 0 1
IFT54 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 388 99 658 1936 151 0 3232
Illumina Laboratory Services, Illumina 0 1 236 46 97 0 380
Natera, Inc. 28 62 150 38 31 0 309
Counsyl 16 80 54 2 0 0 152
Fulgent Genetics, Fulgent Genetics 23 82 23 8 3 0 139
Myriad Genetics, Inc. 4 93 1 0 0 0 98
Genome-Nilou Lab 0 3 6 3 19 0 31
Pars Genome Lab 0 0 0 1 28 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 18 5 0 0 0 0 23
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 14 3 0 0 20
OMIM 16 0 1 0 0 0 17
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
Juno Genomics, Hangzhou Juno Genomics, Inc 3 5 0 0 0 0 8
3billion 5 0 0 1 0 0 6
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 1 4 0 0 0 6
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
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 0 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 1 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Variantyx, Inc. 3 0 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
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 0 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 1 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Dasa 1 0 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
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 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 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 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 1 0 0 0 0 0 1
Otogenetics 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 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
Royal Medical Services, Bahrain Defence Force Hospital 0 0 0 0 0 1 1

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