ClinVar Miner

Variants studied for Joubert syndrome with ocular defect

Included ClinVar conditions (7):
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
65 31 57 9 8 165

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AHI1 43 7 9 1 3 59
MKS1 4 21 27 4 0 55
TMEM231 5 0 11 2 3 21
TMEM237 8 2 4 1 2 17
CEP41 4 1 6 1 0 12
C2CD6, MPP4, TMEM237 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 1 21 24 4 0 50
UW Hindbrain Malformation Research Program,University of Washington 34 0 0 0 0 34
Invitae 8 0 13 3 3 27
OMIM 24 0 1 0 0 25
Fulgent Genetics,Fulgent Genetics 1 0 7 0 0 8
Illumina Clinical Services Laboratory,Illumina 0 1 5 0 0 6
Broad Institute Rare Disease Group,Broad Institute 0 2 3 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
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
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 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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