ClinVar Miner

Variants studied for retinal ciliopathy

Included ClinVar conditions (11):
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
107 115 520 161 27 4 916

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 not provided total
CEP290 64 41 254 59 6 3 417
IFT140 4 19 110 38 7 1 177
BBS2 17 7 59 26 7 0 114
IFT140, LOC105371046 11 10 51 23 5 0 98
TTC8 6 30 25 8 0 0 68
IFT140, LOC126862260 2 1 13 6 2 0 24
CEP290, RLIG1 2 6 7 0 0 0 15
CEP290, LOC129390514 1 1 0 1 0 0 2
BBS2, OGFOD1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 70 50 392 154 3 0 669
Illumina Laboratory Services, Illumina 0 0 117 7 6 0 130
Baylor Genetics 1 29 0 0 0 0 30
New York Genome Center 3 2 22 0 0 0 27
Genome-Nilou Lab 0 0 4 1 18 0 23
OMIM 18 0 0 0 0 0 18
Ocular Genomics Institute, Massachusetts Eye and Ear 7 6 3 0 0 0 16
DBGen Ocular Genomics 5 0 7 0 0 0 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 3 3 0 0 0 9
MVZ Medizinische Genetik Mainz 0 8 1 0 0 0 9
3billion 3 3 1 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 1 2 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 0 0 0 0 5
MGZ Medical Genetics Center 3 0 1 0 0 0 4
Molecular Diagnostics Laboratory, Seoul National University Hospital 4 0 0 0 0 0 4
Genomics England Pilot Project, Genomics England 2 2 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 2 2 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 0 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1

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