ClinVar Miner

Variants studied for Joubert syndrome 3

Coded as:
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 total
58 28 173 40 21 305

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AHI1 58 28 173 40 20 304
SOS1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 10 9 77 27 0 123
Illumina Laboratory Services, Illumina 0 1 81 15 17 114
UW Hindbrain Malformation Research Program, University of Washington 32 0 0 0 0 32
Revvity Omics, Revvity 6 2 6 0 0 14
OMIM 10 0 1 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 3 1 0 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 4 0 1 7
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
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 3
3billion 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 2
Breda Genetics srl 2 0 0 0 0 2
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 2 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 1
New York Genome Center 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1

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