ClinVar Miner

Variants in gene RPGR

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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
149 106 59 38 54 104 451

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 48 18 19 17 13 104 208
Retinal dystrophy 56 53 21 0 0 0 130
Retinitis pigmentosa 33 26 1 2 0 0 62
Primary ciliary dyskinesia 3 2 16 8 26 0 55
not specified 0 0 2 11 31 0 43
Retinitis pigmentosa 15 26 1 1 0 0 0 28
Cone-rod dystrophy, X-linked 1 6 1 0 0 0 0 7
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with deafness 3 0 0 0 0 0 3
Cone-rod dystrophy 0 1 0 0 0 0 1
Cone/cone-rod dystrophy 1 0 0 0 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
Macular degeneration, X-linked atrophic 1 0 0 0 0 0 1
Macular dystrophy 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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Blueprint Genetics 54 52 19 0 0 0 125
Retina International 0 0 0 0 0 103 103
Invitae 3 2 16 13 35 0 69
CeGaT Praxis fuer Humangenetik Tuebingen 32 15 9 3 0 0 59
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 20 0 24
GeneDx 13 2 2 0 4 0 21
Sharon lab,Hadassah-Hebrew University Medical Center 16 3 0 0 0 0 19
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
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 0 0 1 0 4 0 5
Molecular Diagnostics Laboratory, M Health: 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
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 2 2
Baylor Genetics 1 0 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 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
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
Personalis, Inc. 1 0 0 0 0 0 1

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