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
47 13 88 15 20 179

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AHI1 47 13 88 15 19 178
SOS1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 24
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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
Baylor Genetics 1 0 3 0 0 4
Broad Institute Rare Disease Group, Broad Institute 0 0 3 0 1 4
Nilou-Genome Lab 0 0 0 0 4 4
Fulgent Genetics,Fulgent Genetics 1 1 1 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 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
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
Institute of Human Genetics, University of Leipzig Medical Center 2 0 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
New York Genome Center 0 1 0 0 0 1
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Genomics England Pilot Project,Genomics England 1 0 0 0 0 1

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