ClinVar Miner

Variants studied for Joubert syndrome with oculorenal defect

Included ClinVar conditions (23):
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 not provided total
211 168 992 299 110 4 1728

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 82 40 252 61 21 2 448
TMEM237 25 9 203 113 23 0 356
RPGRIP1L 16 28 187 40 17 1 287
CC2D2A 47 18 121 11 21 0 211
NPHP1 12 38 86 16 4 0 155
TMEM138 13 2 70 42 6 0 125
TMEM216 6 25 48 12 13 1 94
CEP290, RLIG1 3 6 7 0 0 0 16
LOC129935417, TMEM237 0 0 10 3 3 0 16
CEP290, LOC129390514 1 0 1 1 0 0 3
LOC126806306, NPHP1 1 2 0 0 0 0 3
LOC130059035, RPGRIP1L 0 0 3 0 0 0 3
​intergenic 1 0 0 0 0 0 1
ALS2, MPP4, TMEM237 1 0 0 0 0 0 1
C2CD6, LOC129935416, LOC129935417, MPP4, TMEM237 1 0 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 1
PKD2 0 0 0 0 1 0 1
RPE65 0 0 0 0 1 0 1
RPGRIP1 0 0 1 0 0 0 1
SMAD6 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 462 55 58 0 575
Fulgent Genetics, Fulgent Genetics 67 64 323 100 1 0 555
Invitae 30 5 188 136 27 0 386
UW Hindbrain Malformation Research Program, University of Washington 83 3 0 0 0 0 86
Baylor Genetics 16 53 10 0 0 0 79
Genome-Nilou Lab 2 2 14 2 38 0 58
Natera, Inc. 1 1 19 4 7 0 32
OMIM 28 0 0 0 0 0 28
Centre for Mendelian Genomics, University Medical Centre Ljubljana 14 4 9 0 0 0 27
New York Genome Center 1 1 24 0 0 0 26
Counsyl 0 10 9 1 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 2 3 0 0 0 13
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 7 4 0 2 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 4 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 4 2 1 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 2 0 0 0 7
Revvity Omics, Revvity 2 1 3 0 0 0 6
3billion 3 0 3 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 1 2 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 2 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 3 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 0 0 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 3 0 0 0 4
Suma Genomics 2 1 1 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 0 3
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Mendelics 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 2 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Pars Genome Lab 1 0 0 1 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1

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