ClinVar Miner

Variants in gene RHO

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Gene type:
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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
145 138 300 142 40 5 629

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 120 38 208 130 20 0 492
Retinal dystrophy 41 52 49 3 8 0 142
Retinitis pigmentosa 4 58 56 17 0 3 0 119
Retinitis pigmentosa 19 22 51 12 13 1 115
Congenital stationary night blindness autosomal dominant 1 4 4 46 10 21 0 84
RHO-related disorder 7 0 2 5 0 0 14
not specified 1 1 1 4 6 0 12
Pigmentary retinal dystrophy 3 3 1 0 3 0 10
Inborn genetic diseases 0 0 6 0 0 0 6
Congenital Stationary Night Blindness, Dominant 0 0 1 2 1 0 4
Retinitis Pigmentosa, Dominant/Recessive 0 0 1 2 1 0 4
Congenital stationary night blindness autosomal dominant 1; Pigmentary retinal dystrophy; Retinitis pigmentosa 4 1 0 2 0 0 0 3
Retinitis pigmentosa 4, autosomal recessive 3 0 0 0 0 0 3
Congenital stationary night blindness autosomal dominant 1; Retinitis pigmentosa 4 0 0 0 0 0 2 2
Autosomal dominant retinitis pigmentosa 0 0 0 0 0 1 1
Autosomal recessive retinitis pigmentosa 1 0 0 0 0 0 1
Blurred vision; Night blindness; Peripheral visual field loss 1 0 0 0 0 0 1
Cone dystrophy 3 0 0 1 0 0 0 1
Cone-rod dystrophy 1 0 0 0 0 0 1
Exudative retinopathy; Retinal detachment; Cataract; Nystagmus; Blindness; Rod-cone dystrophy; Progressive visual loss; Retinal exudate; Abnormality of retinal pigmentation; Monocular strabismus; Optic disc drusen 1 0 0 0 0 0 1
Microcephaly 17, primary, autosomal recessive 1 0 0 0 0 0 1
Neuropathy, congenital hypomyelinating, 2 1 0 0 0 0 0 1
Occult macular dystrophy 0 0 1 0 0 0 1
Optic atrophy 0 0 1 0 0 0 1
Retinitis pigmentosa; Congenital stationary night blindness 0 0 0 0 0 1 1
Retinitis punctata albescens 1 0 0 0 0 0 1
See cases 0 1 0 0 0 0 1
Severe early-childhood-onset retinal dystrophy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 114 24 192 121 13 0 464
Illumina Laboratory Services, Illumina 0 0 50 17 22 0 79
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 27 26 18 1 0 0 72
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 17 38 11 0 0 0 66
Blueprint Genetics 18 15 14 0 0 0 47
Dept Of Ophthalmology, Nagoya University 8 12 17 2 8 0 47
OMIM 45 0 0 0 0 0 45
GeneDx 15 6 15 2 7 0 45
CeGaT Center for Human Genetics Tuebingen 17 5 6 9 0 0 37
Ocular Genomics Institute, Massachusetts Eye and Ear 7 4 8 0 0 0 19
PreventionGenetics, part of Exact Sciences 7 0 2 6 3 0 18
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 9 5 0 0 0 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 2 3 8 0 13
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 7 5 0 0 0 0 12
Clinical Genetics, Academic Medical Center 4 0 2 3 2 0 11
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 2 3 1 1 0 11
Sharon lab, Hadassah-Hebrew University Medical Center 3 8 0 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 5 0 1 4 1 0 11
3billion 6 3 1 0 0 0 10
Eurofins Ntd Llc (ga) 1 0 5 2 1 0 9
Mendelics 4 4 0 0 0 0 8
Department of Ophthalmology and Visual Sciences Kyoto University 4 2 0 1 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 1 1 1 0 6
Ambry Genetics 0 0 6 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 1 0 0 0 6
NIHR Bioresource Rare Diseases, University of Cambridge 0 6 0 0 0 0 6
SingHealth Duke-NUS Institute of Precision Medicine 4 2 0 0 0 0 6
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 5 0 1 0 0 0 6
DBGen Ocular Genomics 1 3 1 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 3 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 2 1 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Genomics England Pilot Project, Genomics England 1 2 0 0 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 2 0 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 1 0 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Molecular Genetics Unit, Terrassa Hospital 0 0 0 0 0 1 1
INSERM U1051, Institut des Neurosciences de Montpellier 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 0 1
College of Ophthalmology, Chengdu University of Traditional Chinese Medicine 0 0 1 0 0 0 1

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