ClinVar Miner

Variants studied for Joubert syndrome 7

Included ClinVar conditions (5):
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 not provided total
26 90 317 44 18 1 489

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 not provided total
RPGRIP1L 26 90 313 44 17 1 484
LOC130059035, RPGRIP1L 0 0 3 0 0 0 3
PKD2 0 0 0 0 1 0 1
RPGRIP1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 8 82 233 33 1 0 356
Illumina Laboratory Services, Illumina 0 0 103 10 12 0 125
Genome-Nilou Lab 0 0 0 0 13 0 13
UW Hindbrain Malformation Research Program, University of Washington 11 0 0 0 0 0 11
OMIM 7 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 2 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 1 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 1 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 1 0 3
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 3 0 0 0 3
3billion 1 0 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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