ClinVar Miner

Variants studied for Joubert syndrome 5

Included ClinVar conditions (4):
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
39 9 114 7 15 183

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
CEP290 39 9 108 7 15 177
C12orf29, CEP290 0 0 6 0 0 6

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 108 7 15 130
UW Hindbrain Malformation Research Program,University of Washington 30 0 0 0 0 30
Fulgent Genetics,Fulgent Genetics 9 1 10 0 0 20
OMIM 4 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 3 0 0 0 4
Broad Institute Rare Disease Group,Broad Institute 0 3 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 1

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