ClinVar Miner

Variants studied for Joubert syndrome 5

Coded as:
Minimum submission review status: Collection method:
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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 total
57 15 125 8 21 222

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 total
CEP290 54 14 118 8 21 211
CEP290, RLIG1 2 1 6 0 0 9
CEP290, LOC129390514 1 0 1 0 0 2

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 108 7 15 130
UW Hindbrain Malformation Research Program, University of Washington 30 0 0 0 0 30
Genome-Nilou Lab 2 2 14 2 6 26
Centre for Mendelian Genomics, University Medical Centre Ljubljana 12 1 4 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 5 1 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 3 1 2 0 0 6
OMIM 4 0 0 0 0 4
Baylor Genetics 2 1 1 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 4 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 1 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 2 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 2 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 2
Pars Genome Lab 1 0 0 1 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 1
3billion 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 1

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