ClinVar Miner

Variants studied for Joubert syndrome and related disorders

Included ClinVar conditions (49):
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
707 779 3972 2036 304 14 7609

Gene and significance breakdown #

Total genes and gene combinations: 64
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KIAA0586 100 46 607 515 58 2 1324
CSPP1 92 23 424 339 33 1 904
ZNF423 1 2 402 404 40 0 842
CEP290 116 140 476 63 21 3 803
AHI1 77 89 293 43 20 0 490
CC2D2A 64 88 281 13 22 1 450
TMEM231 39 22 203 166 18 0 428
TMEM237 28 17 234 142 23 0 420
CEP41 18 8 232 125 24 0 393
RPGRIP1L 16 90 238 33 2 2 376
TMEM67 36 56 125 24 2 1 232
ARFGEF1, CSPP1 9 5 103 88 10 0 213
MKS1 9 38 117 3 5 2 166
TMEM138 15 12 93 51 6 1 161
TMEM216 8 33 76 13 13 1 133
CEP290, RLIG1 5 9 20 1 0 0 32
CPLANE1 19 13 0 0 0 0 32
LOC130059440, TMEM231 4 1 9 8 1 0 23
LOC129935417, TMEM237 0 3 12 3 3 0 20
INPP5E 4 13 0 0 0 0 17
CEP104 3 9 0 0 0 0 12
NPHP1 7 5 0 0 0 0 12
LOC130061271, MKS1 0 3 7 1 0 0 11
ARL13B 1 9 0 0 0 0 10
CEP290, LOC129390514 1 2 6 1 0 0 10
NPHP3, NPHP3-ACAD11 4 6 0 0 0 0 10
TCTN1 3 6 0 0 0 0 9
TCTN2 3 5 0 0 0 0 8
KIF14 0 7 0 0 0 0 7
TXNDC15 1 1 5 0 0 0 7
TCTN3 5 1 0 0 0 0 6
B9D2 1 4 0 0 0 0 5
B9D1 0 4 0 0 0 0 4
LOC130004408, TCTN3 1 2 0 0 0 0 3
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 0 2
ADCY7, BRD7, CNEP1R1, CYLD, HEATR3, NKD1, NOD2, SALL1, SNX20, TENT4B, ZNF423 0 0 2 0 0 0 2
CC2D2A, FBXL5 1 1 0 0 0 0 2
CEP104, LOC126805586 1 1 0 0 0 0 2
IFT140 2 0 0 0 0 0 2
LOC129937586, NPHP3, NPHP3-ACAD11 0 2 0 0 0 0 2
ALS2, MPP4, TMEM237 1 0 0 0 0 0 1
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 0 1
ARFGEF1, CPA6, CSPP1 1 0 0 0 0 0 1
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L 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
CHST5, CHST6, TMEM170A, TMEM231 1 0 0 0 0 0 1
CHST5, CHST6, TMEM231 1 0 0 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 1
CPLANE1, LOC129389274 1 0 0 0 0 0 1
GLIS2 0 0 1 0 0 0 1
IFT140, LOC105371046 1 0 0 0 0 0 1
IFT140, LOC126862260 1 0 0 0 0 0 1
KIF7 1 0 0 0 0 0 1
LRRCC1 0 1 0 0 0 0 1
NIN 0 1 0 0 0 0 1
NPHP3 0 1 0 0 0 0 1
OFD1 1 0 0 0 0 0 1
RPE65 0 0 0 0 1 0 1
SMAD6 0 0 1 0 0 0 1
SOS1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 123
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 270 76 2024 1797 191 0 4358
Fulgent Genetics, Fulgent Genetics 158 426 1409 161 1 0 2153
Illumina Laboratory Services, Illumina 1 1 496 69 75 0 642
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 112 133 0 0 0 0 245
UW Hindbrain Malformation Research Program, University of Washington 120 3 0 0 0 0 123
Genome-Nilou Lab 2 3 18 2 67 0 92
Baylor Genetics 12 25 37 0 0 0 74
Counsyl 1 31 33 5 0 0 70
OMIM 67 0 1 0 0 0 68
Department of Pathology and Laboratory Medicine, Sinai Health System 12 9 36 0 3 0 60
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 24 16 20 0 0 0 58
Natera, Inc. 2 11 29 4 7 0 53
Revvity Omics, Revvity 12 6 30 0 0 0 48
New York Genome Center 3 2 37 0 0 0 42
3billion 17 8 9 2 0 0 36
Juno Genomics, Hangzhou Juno Genomics, Inc 23 8 4 0 0 0 35
First Genomix Gene Laboratory, Genetic Diagnostics Department 8 17 0 0 0 0 25
Centre for Mendelian Genomics, University Medical Centre Ljubljana 15 1 7 0 0 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 3 7 0 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 3 3 15 0 0 0 21
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 5 9 0 2 0 18
Institute of Human Genetics, University of Leipzig Medical Center 9 2 1 0 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 1 4 1 0 0 11
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 3 2 0 0 0 8
Dubai Health Genomic Medicine Center, Dubai Health 1 4 1 0 2 0 8
Genetic Services Laboratory, University of Chicago 6 2 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 4 4 0 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Institute of Genetic Medicine, Newcastle University 1 1 5 0 0 0 7
Myriad Genetics, Inc. 3 4 0 0 0 0 7
Daryl Scott Lab, Baylor College of Medicine 4 2 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 2 1 1 0 2 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 1 0 5
Johns Hopkins Genomics, Johns Hopkins University 1 3 0 0 1 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 3 0 0 0 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 1 0 0 0 5
Mendelics 2 1 1 0 1 0 5
Suma Genomics 3 1 1 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 4 0 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 2 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 3
Genomic Medicine Lab, University of California San Francisco 3 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 3 0 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 2 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 3
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 1 0 0 0 3
MVZ Martinsried, Medicover Genetics 3 0 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
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 0 2 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Breda Genetics srl, Breda Genetics srl 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Lifecell International Pvt. Ltd 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 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
Medical Genetics Clinic, University of Catania 0 0 2 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 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
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 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
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
TIDEX, University of British Columbia 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
University of Iowa Renal Genetics Clinic, University of Iowa 0 2 0 0 0 0 2
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
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
Credence Genomics 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 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
Genetics and Molecular Pathology, SA Pathology 0 1 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 for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 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
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
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Next Generation Genetic Polyclinic 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1

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