ClinVar Miner

Variants studied for Joubert syndrome 23

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 not provided total
17 12 10 0 8 1 46

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
KIAA0586 17 12 10 8 1 46

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
UW Hindbrain Malformation Research Program, University of Washington 9 0 0 0 0 9
Baylor Genetics 1 1 4 0 0 6
Genome-Nilou Lab 0 0 0 6 0 6
OMIM 5 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 4 0 0 0 0 4
Mendelics 1 0 0 2 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
GeneReviews 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 1
New York Genome Center 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 1

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