ClinVar Miner

Variants studied for RPGR-related retinopathy

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
115 83 35 8 6 242

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RPGR 112 81 30 5 5 228
RP2 2 1 5 3 1 12
CFAP47, CXorf22, CXorf30, CYBB, DYNLT3, FAM47C, H2AP, LANCL3, MAGEB16, OTC, PRRG1, RPGR, SRPX, SYTL5, TSPAN7, XK 1 0 0 0 0 1
LOC130068098, RPGR 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Blueprint Genetics 51 45 10 0 0 106
OMIM 21 0 0 0 0 21
DBGen Ocular Genomics 10 2 7 0 0 19
Mendelics 7 4 1 0 1 13
Institute of Medical Molecular Genetics, University of Zurich 8 4 0 0 0 12
Fulgent Genetics, Fulgent Genetics 3 0 1 4 2 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 2 4 0 0 10
Baylor Genetics 5 3 1 0 0 9
Ocular Genomics Institute, Massachusetts Eye and Ear 2 5 2 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 0 0 0 0 8
Illumina Laboratory Services, Illumina 0 0 4 3 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 6 0 1 0 0 7
3billion 3 4 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 2 0 0 5
MGZ Medical Genetics Center 2 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 3 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 2
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 1 1 0 0 0 2
Northern Molecular Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Edmonton Ocular Genetics, Alberta Health Services 1 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 1
Breda Genetics srl 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 1

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