ClinVar Miner

Variants studied for Joubert syndrome with ocular defect

Included ClinVar conditions (14):
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
174 159 1106 462 115 2 1961

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP41 13 5 228 113 24 0 372
TMEM237 25 9 203 113 23 0 356
TMEM231 29 6 159 126 16 0 331
AHI1 60 27 174 40 20 0 306
RPGRIP1L 16 28 187 41 17 1 288
NPHP1 12 38 86 16 4 0 155
MKS1 7 40 44 3 5 1 94
LOC130059440, TMEM231 3 1 8 6 1 0 19
LOC129935417, TMEM237 0 0 10 3 3 0 16
LOC130061271, MKS1 0 3 1 1 0 0 5
LOC126806306, NPHP1 1 2 0 0 0 0 3
LOC130059035, RPGRIP1L 0 0 3 0 0 0 3
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 0 2
​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
CHST5, CHST6, TMEM170A, TMEM231 1 0 0 0 0 0 1
CHST5, CHST6, TMEM231 1 0 0 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 1
PKD2 0 0 0 0 1 0 1
RPGRIP1 0 0 1 0 0 0 1
SOS1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 63 13 436 328 47 0 887
Illumina Laboratory Services, Illumina 0 1 397 61 56 0 515
Fulgent Genetics, Fulgent Genetics 20 42 247 70 1 0 380
Baylor Genetics 12 42 13 0 0 0 67
Counsyl 1 21 24 4 0 0 50
UW Hindbrain Malformation Research Program, University of Washington 46 0 0 0 0 0 46
OMIM 32 0 1 0 0 0 33
Genome-Nilou Lab 0 1 4 0 25 0 30
Revvity Omics, Revvity 8 2 10 0 0 0 20
Myriad Genetics, Inc. 0 18 0 0 0 0 18
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 3 4 1 0 0 15
New York Genome Center 0 1 13 0 0 0 14
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 4 5 0 2 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 4 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 2 0 0 0 5
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 1 0 0 0 5
3billion 4 1 0 0 0 0 5
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 5 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 2 3 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 0 4
Molecular Genetics, Royal Melbourne Hospital 1 1 1 0 1 0 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 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
Mendelics 0 0 1 0 1 0 2
GeneReviews 0 0 0 0 0 2 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 1 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
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 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 2 0 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 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
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1

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