ClinVar Miner

Variants studied for Joubert syndrome 7

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
16 9 107 10 18 1 159

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 16 9 103 10 17 1 154
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: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
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
Broad Institute Rare Disease Group, Broad Institute 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1

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