ClinVar Miner

Variants studied for Joubert syndrome with ocular defect

Included ClinVar conditions (8):
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
80 39 430 114 61 704

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP41 7 1 152 33 19 207
TMEM237 12 4 128 41 12 189
AHI1 49 11 89 15 17 177
TMEM231 6 2 33 21 12 72
MKS1 4 21 27 4 0 55
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 1
C2CD6, MPP4, TMEM237 1 0 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 1
SOS1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 256 47 40 344
Invitae 16 2 139 63 20 240
Counsyl 1 21 24 4 0 50
UW Hindbrain Malformation Research Program,University of Washington 34 0 0 0 0 34
OMIM 24 0 1 0 0 25
Baylor Genetics 3 2 10 0 0 15
Fulgent Genetics,Fulgent Genetics 1 0 7 0 0 8
Broad Institute Rare Disease Group, Broad Institute 0 2 3 0 1 6
Laboratory of Genetics in Ophthalmology,Institut Imagine 4 0 1 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 4
Mendelics 0 1 1 0 1 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 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
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 2
Breda Genetics srl 2 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1

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