ClinVar Miner

Variants studied for Joubert syndrome with ocular defect

Included ClinVar conditions (9):
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
172 168 1110 491 95 1 1947

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AHI1 70 82 293 43 20 0 480
TMEM231 36 18 203 166 18 0 424
TMEM237 28 14 234 142 23 0 419
CEP41 18 8 232 125 24 0 393
MKS1 9 38 117 3 5 1 165
LOC130059440, TMEM231 4 1 9 8 1 0 23
LOC129935417, TMEM237 0 3 12 3 3 0 20
LOC130061271, MKS1 0 3 7 1 0 0 11
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 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
CHST5, CHST6, TMEM170A, TMEM231 1 0 0 0 0 0 1
CHST5, CHST6, TMEM231 1 0 0 0 0 0 1
GLIS2 0 0 1 0 0 0 1
KIF7 1 0 0 0 0 0 1
NIN 0 1 0 0 0 0 1
SOS1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 77 15 444 410 47 0 993
Fulgent Genetics, Fulgent Genetics 24 105 422 34 0 0 585
Illumina Laboratory Services, Illumina 1 1 252 47 40 0 341
Counsyl 1 21 24 4 0 0 50
UW Hindbrain Malformation Research Program, University of Washington 34 0 0 0 0 0 34
OMIM 26 0 1 0 0 0 27
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 9 7 0 0 0 23
Revvity Omics, Revvity 8 3 12 0 0 0 23
Department of Pathology and Laboratory Medicine, Sinai Health System 3 0 16 0 2 0 21
Genome-Nilou Lab 0 1 4 0 11 0 16
Baylor Genetics 2 4 9 0 0 0 15
New York Genome Center 0 1 12 0 0 0 13
First Genomix Gene Laboratory, Genetic Diagnostics Department 5 6 0 0 0 0 11
3billion 7 2 1 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 5 0 1 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 5 0 0 0 9
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 0 1 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 0 5
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
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 0 0 0 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
Daryl Scott Lab, Baylor College of Medicine 0 2 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Joe DiMaggio Children's Hospital, Memorial Healthcare System 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 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
Mendelics 0 0 1 0 1 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 0 2
Myriad Genetics, Inc. 1 1 0 0 0 0 2
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 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
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1

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