ClinVar Miner

Variants studied for Joubert syndrome 5

Included ClinVar conditions (11):
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
121 151 502 65 21 3 844

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 115 140 476 63 21 3 802
CEP290, RLIG1 5 9 20 1 0 0 32
CEP290, LOC129390514 1 2 6 1 0 0 10

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 81 126 396 57 0 0 660
Illumina Laboratory Services, Illumina 0 0 108 7 15 0 130
UW Hindbrain Malformation Research Program, University of Washington 30 0 0 0 0 0 30
Genome-Nilou Lab 2 2 14 2 6 0 26
New York Genome Center 1 1 21 0 0 0 23
Centre for Mendelian Genomics, University Medical Centre Ljubljana 12 1 4 0 0 0 17
Juno Genomics, Hangzhou Juno Genomics, Inc 9 2 0 0 0 0 11
3billion 6 3 0 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 3 3 1 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 5 1 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 1 2 0 0 0 6
OMIM 5 0 0 0 0 0 5
Baylor Genetics 2 1 1 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 1 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 3 0 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 0 3
Suma Genomics 2 0 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 2 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 2 0 0 0 2
Pars Genome Lab 1 0 0 1 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1

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