ClinVar Miner

Variants studied for CEP290-related ciliopathy

Included ClinVar conditions (17):
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 risk factor not provided total
213 401 643 104 24 1 3 1302

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CEP290 178 339 498 78 24 0 3 1038
TMEM67 23 35 119 24 0 1 0 201
CEP290, RLIG1 7 19 20 1 0 0 0 44
CEP290, LOC129390514 2 6 6 1 0 0 0 14
TMEM218 2 0 0 0 0 0 0 2
GBA2 0 1 0 0 0 0 0 1
LOC107982234, WT1 1 0 0 0 0 0 0 1
WT1 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Fulgent Genetics, Fulgent Genetics 104 161 514 81 0 0 0 860
Baylor Genetics 138 235 7 0 0 0 0 379
Illumina Laboratory Services, Illumina 0 0 118 23 18 0 0 130
UW Hindbrain Malformation Research Program, University of Washington 32 0 0 0 0 0 0 32
Genome-Nilou Lab 2 2 14 2 6 0 0 26
New York Genome Center 1 1 22 0 0 0 0 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 4 0 0 0 0 0 17
Centre for Mendelian Genomics, University Medical Centre Ljubljana 12 1 4 0 0 0 0 17
OMIM 13 0 0 0 0 1 0 14
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 12 0 0 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 0 3 0 0 0 0 11
Ocular Genomics Institute, Massachusetts Eye and Ear 6 5 0 0 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 5 2 4 0 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 2 2 0 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 7 2 0 0 0 0 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 4 3 0 0 0 0 8
3billion, Medical Genetics 6 0 1 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 5 1 0 0 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 3 0 0 0 0 0 5
DBGen Ocular Genomics 3 0 2 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 0 4
MGZ Medical Genetics Center 3 0 0 1 0 0 0 4
Molecular Diagnostics Laboratory, Seoul National University Hospital 4 0 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 2 0 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 3 0 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 4 0 0 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 2 2 0 0 0 0 0 4
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 0 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 0 3
Suma Genomics 2 0 1 0 0 0 0 3
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 2 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 0 2
Pars Genome Lab 1 0 0 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
Molecular Endocrinology Laboratory, Christian Medical College 0 0 2 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 2 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 1 0 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 1
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 1 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 0 1

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