ClinVar Miner

Variants studied for Joubert syndrome 3

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
45 11 86 15 17 170

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AHI1 45 11 86 15 17 170

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 81 15 17 114
UW Hindbrain Malformation Research Program,University of Washington 32 0 0 0 0 32
OMIM 10 0 1 0 0 11
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 3
Broad Institute Rare Disease Group,Broad Institute 0 0 3 0 0 3
Genetic Services Laboratory,University of Chicago 1 1 0 0 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 2
Breda Genetics srl 2 0 0 0 0 2
Mendelics 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1

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