ClinVar Miner

Variants studied for Joubert syndrome and related disorders

Included ClinVar conditions (41):
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
561 400 3008 1687 298 7 5841

Gene and significance breakdown #

Total genes and gene combinations: 57
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KIAA0586 84 35 587 407 56 2 1168
CSPP1 77 22 422 277 33 1 826
ZNF423 1 2 395 352 40 0 783
CEP290 88 44 253 61 21 2 458
CEP41 13 5 229 113 24 0 373
TMEM237 26 12 203 113 23 0 358
TMEM231 32 9 159 126 16 0 335
AHI1 66 39 174 40 20 0 321
CC2D2A 55 22 131 11 22 0 234
ARFGEF1, CSPP1 8 5 103 66 10 0 190
RPGRIP1L 9 30 108 30 1 0 177
TMEM138 13 4 72 42 6 0 128
TMEM67 26 17 45 23 2 0 112
TMEM216 6 28 48 12 13 1 97
MKS1 7 40 44 3 5 1 94
CPLANE1 10 12 0 0 0 0 22
LOC130059440, TMEM231 3 1 8 6 1 0 19
CEP290, RLIG1 4 6 7 0 0 0 16
LOC129935417, TMEM237 0 0 10 3 3 0 16
INPP5E 3 8 0 0 0 0 11
ARL13B 0 9 0 0 0 0 9
CEP104 1 7 0 0 0 0 8
NPHP1 3 5 0 0 0 0 8
TCTN1 2 6 0 0 0 0 8
TCTN2 3 5 0 0 0 0 8
KIF14 0 6 0 0 0 0 6
NPHP3, NPHP3-ACAD11 1 5 0 0 0 0 6
B9D2 1 4 0 0 0 0 5
LOC130061271, MKS1 0 3 1 1 0 0 5
TCTN3 4 0 0 0 0 0 4
CEP290, LOC129390514 1 0 1 1 0 0 3
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
B9D1 0 2 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
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
CEP104, LOC126805586 0 1 0 0 0 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
IFT140, LOC105371046 1 0 0 0 0 0 1
IFT140, LOC126862260 1 0 0 0 0 0 1
LRRCC1 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: 105
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 223 64 1988 1463 189 0 3927
Fulgent Genetics, Fulgent Genetics 89 74 417 143 1 0 724
Illumina Laboratory Services, Illumina 0 1 500 69 75 0 645
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 73 111 0 0 0 0 184
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 64 0 1 0 0 0 65
Revvity Omics, Revvity 12 4 28 0 0 0 44
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 19 11 14 0 0 0 43
New York Genome Center 3 2 36 0 0 0 41
Natera, Inc. 1 1 19 4 7 0 32
Juno Genomics, Hangzhou Juno Genomics, Inc 16 7 3 0 0 0 26
Centre for Mendelian Genomics, University Medical Centre Ljubljana 15 1 7 0 0 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 3 7 0 0 0 20
Myriad Genetics, Inc. 1 18 0 0 0 0 19
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 5 9 0 2 0 18
Neuberg Centre For Genomic Medicine, NCGM 3 3 12 0 0 0 18
3billion 8 3 4 2 0 0 17
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
Genetic Services Laboratory, University of Chicago 6 2 0 0 0 0 8
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 3 2 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 4 0 0 0 0 7
Molecular Genetics, Royal Melbourne Hospital 2 1 1 0 2 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 3 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 1 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 1 0 0 0 5
Suma Genomics 3 1 1 0 0 0 5
Mendelics 1 1 1 0 1 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 0 4
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 4 0 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 2 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 2 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 3
GeneReviews 0 0 0 0 0 3 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 0 0 2 0 3
Genomic Medicine Lab, University of California San Francisco 3 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 0 3
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 1 0 0 0 3
Genomics England Pilot Project, Genomics England 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
TIDEX, University of British Columbia 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 0 2
University of Iowa Renal Genetics Clinic, University of Iowa 0 2 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 2 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
Lifecell International Pvt. Ltd 2 0 0 0 0 0 2
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 2 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
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
Mayo Clinic Laboratories, Mayo Clinic 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 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
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Credence Genomics 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 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
MVZ Medizinische Genetik Mainz 1 0 0 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

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