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
58 42 27 29 46 104 274

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 11 15 15 10 2 104 152
not specified 0 0 2 11 30 0 43
Primary ciliary dyskinesia 1 1 6 8 26 0 42
Retinitis pigmentosa 11 20 1 0 0 0 32
Retinitis pigmentosa 15 25 0 1 0 0 0 26
Cone-rod dystrophy, X-linked 1 6 1 0 0 0 0 7
Retinal dystrophy 2 1 2 0 0 0 5
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
Congenital stationary night blindness 0 1 0 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, X-linked, and sinorespiratory infections, with or without deafness 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Retina International 0 0 0 0 0 103 103
Invitae 1 1 6 8 26 0 42
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 13 5 1 0 0 19
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
GeneDx 5 1 2 0 2 0 10
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
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 1 2 0 0 0 4
Molecular Diagnostics Laboratory,M Health: University of Minnesota 3 1 0 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Ambry Genetics 0 1 0 0 0 0 1
Personalis, Inc. 1 0 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
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
Edmonton Ocular Genetics,Alberta Health Services 1 0 0 0 0 0 1

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