ClinVar Miner

Variants studied for Joubert syndrome 3

Included ClinVar conditions (1):
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 total
68 83 292 43 21 479

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AHI1 68 82 292 43 20 477
NIN 0 1 0 0 0 1
SOS1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 15 60 197 31 0 303
Illumina Laboratory Services, Illumina 1 1 80 15 17 114
UW Hindbrain Malformation Research Program, University of Washington 32 0 0 0 0 32
Revvity Omics, Revvity 6 3 8 0 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 7 2 0 0 13
OMIM 10 0 1 0 0 11
First Genomix Gene Laboratory, Genetic Diagnostics Department 4 4 0 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 4 0 1 7
3billion 6 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 4 0 0 6
Baylor Genetics 1 1 3 0 0 5
Genome-Nilou Lab 0 0 0 0 4 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 2
Breda Genetics srl, Breda Genetics srl 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 2
Myriad Genetics, Inc. 1 1 0 0 0 2
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 2 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 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 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
New York Genome Center 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1

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