ClinVar Miner

Variants in gene RPGR

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
200 140 85 41 55 104 540

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 58 20 21 17 13 104 221
Retinitis pigmentosa 15 80 57 15 0 0 0 151
Retinal dystrophy 55 51 22 0 0 0 127
Retinitis pigmentosa 67 26 1 2 0 0 96
Primary ciliary dyskinesia 6 2 28 14 26 0 76
not specified 0 0 2 11 31 0 43
Cone-rod dystrophy, X-linked 1 6 1 1 0 0 0 8
none provided 1 0 0 0 3 0 4
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with deafness 3 0 0 0 0 0 3
Macular degeneration, X-linked atrophic 2 0 0 0 0 0 2
Macular dystrophy 0 1 1 0 0 0 2
Cone dystrophy 1 0 0 0 0 0 1
Cone-rod dystrophy 0 1 0 0 0 0 1
Cone-rod dystrophy, X-linked 1; Retinitis pigmentosa 15 0 0 0 1 0 0 1
Congenital stationary night blindness 0 1 0 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 1
Retinitis pigmentosa 6 0 1 0 0 0 0 1
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Blueprint Genetics 70 73 25 0 0 0 164
Retina International 0 0 0 0 0 103 103
Invitae 6 2 25 15 35 0 83
CeGaT Praxis fuer Humangenetik Tuebingen 35 15 9 3 0 0 62
Molecular Genetics Laboratory,Institute for Ophthalmic Research 36 0 0 0 0 0 36
PreventionGenetics, PreventionGenetics 0 0 0 9 23 0 32
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 1 7 2 11 0 27
OMIM 26 0 0 0 0 0 26
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 2 2 21 0 25
GeneDx 13 2 2 0 4 0 21
Sharon lab,Hadassah-Hebrew University Medical Center 16 3 0 0 0 0 19
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 14 2 0 0 0 0 16
Mendelics 9 3 0 2 0 0 14
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 5 7 1 0 0 0 13
NIHR Bioresource Rare Diseases, University of Cambridge 3 10 0 0 0 0 13
Institute of Medical Molecular Genetics, University of Zurich 8 4 0 0 0 0 12
Ocular Genomics Institute, Massachusetts Eye and Ear 2 5 2 0 0 0 9
Department of Ophthalmology and Visual Sciences Kyoto University 0 5 0 3 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 6 2 0 8
Human Genetics - Radboudumc,Radboudumc 7 0 1 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 1 0 5 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 2 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 2 0 0 0 0 5
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 1 2 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 3 0 0 0 3
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 2 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Ambry Genetics 0 1 0 0 0 0 1
Northern Molecular Genetics Service,Newcastle Upon Tyne Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Rui Chen Lab,Baylor College of Medicine 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Department of Genetics,Fundacion Jimenez Diaz University Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Edmonton Ocular Genetics,Alberta Health Services 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 1
Breda Genetics srl 0 0 0 1 0 0 1
Personalis, Inc. 1 0 0 0 0 0 1

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