ClinVar Miner

Variants studied for Joubert syndrome 9

Included ClinVar conditions (4):
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
47 18 123 11 22 214

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 47 18 121 11 21 211
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: 32
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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
Fulgent Genetics, Fulgent Genetics 6 2 22 3 0 33
Genome-Nilou Lab 0 0 0 0 13 13
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 2 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 2
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
New York Genome Center 0 0 2 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
Johns Hopkins Genomics, Johns Hopkins University 0 1 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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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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