ClinVar Miner

Variants studied for Joubert syndrome 9

Coded as:
Minimum submission review status: Collection method:
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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
48 13 110 8 22 195

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CC2D2A 48 13 108 8 21 192
CAV3, OXTR 0 0 1 0 0 1
RPE65 0 0 0 0 1 1
SMAD6 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 90 8 11 109
UW Hindbrain Malformation Research Program, University of Washington 34 2 0 0 0 36
Genome-Nilou Lab 0 0 0 0 13 13
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 1 4 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 1 0 0 7
Baylor Genetics 1 0 4 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 3 0 0 5
OMIM 4 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 1 4
3billion 1 0 3 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 2 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Mendelics 0 1 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 1
Suma Genomics 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 1

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