ClinVar Miner

Variants studied for Ellis-van Creveld syndrome

Included ClinVar conditions (2):
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
379 266 822 1879 198 3352

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EVC2 194 119 359 932 72 1598
EVC 162 123 417 861 112 1574
EVC2, LOC126806961 11 12 33 63 11 123
EVC, LOC129992144 6 11 5 6 0 25
EVC2, LOC126806962 0 1 3 12 0 16
EVC, EVC2 5 0 1 4 3 10
EVC, LOC129992148 0 0 1 1 0 2
ADD1, ADRA2C, CYTL1, DOK7, EVC2, FAM193A, GRK4, HAUS3, HGFAC, HTT, LINC01587, LRPAP1, LYAR, MFSD10, MSANTD1, MSX1, MXD4, NOP14, NSG1, OTOP1, POLN, RGS12, RNF4, SH3BP2, STK32B, STX18, TMEM128, TNIP2, ZBTB49, ZFYVE28 1 0 0 0 0 1
CCDC39 0 0 1 0 0 1
TRAF3IP1 0 0 1 0 0 1
WDR35 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 358 91 521 1829 150 2949
Illumina Laboratory Services, Illumina 0 1 248 50 101 398
Counsyl 16 80 54 2 0 152
Natera, Inc. 15 3 61 32 31 142
Myriad Genetics, Inc. 1 91 1 0 0 93
Fulgent Genetics, Fulgent Genetics 12 9 17 8 3 49
Genome-Nilou Lab 0 3 6 3 19 31
Pars Genome Lab 0 0 0 1 28 29
OMIM 16 0 1 0 0 17
Baylor Genetics 0 1 9 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 1 0 0 0 7
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 1 4 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 0 0 5
Dan Cohn Lab, University Of California Los Angeles 5 0 0 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 1 1 0 0 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 2 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 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 1 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 2
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
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 2
Cancer Diagnostics Division, Gene Solutions 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Prenatal Diagnosis Center, International Peace Maternity & Child Health Hospital 2 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
DASA 1 0 0 0 0 1

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