ClinVar Miner

Variants studied for Joubert syndrome with oculorenal defect

Included ClinVar conditions (21):
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
237 298 1603 691 129 5 2868

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ZNF423 1 2 402 404 40 0 842
CEP290 115 140 476 63 21 3 802
CC2D2A 63 84 279 13 21 0 442
TMEM237 28 14 234 142 23 0 419
TMEM138 15 11 93 51 6 1 160
TMEM216 6 33 76 13 13 1 131
CEP290, RLIG1 5 9 20 1 0 0 32
LOC129935417, TMEM237 0 3 12 3 3 0 20
CEP290, LOC129390514 1 2 6 1 0 0 10
ADCY7, BRD7, CNEP1R1, CYLD, HEATR3, NKD1, NOD2, SALL1, SNX20, TENT4B, ZNF423 0 0 2 0 0 0 2
ALS2, MPP4, TMEM237 1 0 0 0 0 0 1
CATSPERT, LOC129935416, LOC129935417, MPP4, TMEM237 1 0 0 0 0 0 1
CATSPERT, MPP4, STRADB, TMEM237 0 0 1 0 0 0 1
CATSPERT, TMEM237 1 0 0 0 0 0 1
CAV3, OXTR 0 0 1 0 0 0 1
CFTR 0 0 0 0 1 0 1
RPE65 0 0 0 0 1 0 1
SMAD6 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 35 6 590 573 67 0 1271
Fulgent Genetics, Fulgent Genetics 102 214 691 70 0 0 1076
Illumina Laboratory Services, Illumina 0 0 321 41 42 0 404
UW Hindbrain Malformation Research Program, University of Washington 71 3 0 0 0 0 74
Genome-Nilou Lab 2 2 14 2 49 0 69
Natera, Inc. 2 11 29 4 7 0 53
Baylor Genetics 6 21 8 0 0 0 35
Juno Genomics, Hangzhou Juno Genomics, Inc 18 5 4 0 0 0 27
New York Genome Center 1 1 24 0 0 0 26
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 12 3 9 0 0 0 24
Centre for Mendelian Genomics, University Medical Centre Ljubljana 14 1 7 0 0 0 22
Department of Pathology and Laboratory Medicine, Sinai Health System 5 5 12 0 0 0 22
OMIM 22 0 0 0 0 0 22
3billion 9 4 8 0 0 0 21
Counsyl 0 10 9 1 0 0 20
Revvity Omics, Revvity 2 1 12 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 2 2 0 0 0 14
Neuberg Centre For Genomic Medicine, NCGM 3 1 8 0 0 0 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 5 4 0 1 0 10
Institute of Human Genetics, University of Leipzig Medical Center 6 2 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 4 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 2 2 0 0 0 6
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 5 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 1 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 4 0 0 0 0 5
Dubai Health Genomic Medicine Center, Dubai Health 1 2 1 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 2 0 0 1 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 3 0 0 0 0 4
Suma Genomics 2 1 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 3 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 2 0 0 0 3
MVZ Martinsried, Medicover Genetics 3 0 0 0 0 0 3
Mendelics 2 1 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 1 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 0 3
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 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 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
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 0 2
Pars Genome Lab 1 0 0 1 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 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
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 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
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Genetics laboratory, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences 0 0 1 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 0 1
Next Generation Genetic Polyclinic 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1

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