ClinVar Miner

Variants studied for Joubert syndrome 23

Included ClinVar conditions (2):
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 not provided total
91 41 590 407 56 3 1180

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 not provided total
KIAA0586 90 41 590 407 56 3 1179
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 82 30 586 406 54 0 1158
UW Hindbrain Malformation Research Program, University of Washington 9 0 0 0 0 0 9
Baylor Genetics 1 1 4 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
OMIM 5 0 0 0 0 0 5
Mendelics 1 0 0 0 2 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 1 2 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
New York Genome Center 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1

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