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
98 83 149 42 29 2 326

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 64 13 79 24 8 0 181
Retinitis pigmentosa 15 19 51 12 13 1 110
Retinitis pigmentosa 4 51 49 13 0 0 0 102
Congenital stationary night blindness, autosomal dominant 1 4 1 45 11 21 0 82
Retinal dystrophy 18 15 14 0 0 0 47
not specified 1 1 1 4 5 0 11
Pigmentary retinal dystrophy 2 2 1 0 0 0 5
Congenital Stationary Night Blindness, Dominant 0 0 1 2 1 0 4
Retinitis Pigmentosa, Dominant/Recessive 0 0 1 2 1 0 4
Retinitis pigmentosa 4, autosomal recessive 3 0 0 0 0 0 3
Autosomal dominant retinitis pigmentosa 0 0 0 0 0 1 1
Blurred vision; Nyctalopia; 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
Congenital hypomyelinating neuropathy 2 1 0 0 0 0 0 1
Congenital stationary night blindness, autosomal dominant 1; Pigmentary retinal dystrophy; Retinitis pigmentosa 4 1 0 0 0 0 0 1
Exudative retinopathy; Retinal detachment; Cataract (disease); Nystagmus; Blindness; Rod-cone dystrophy; Progressive visual loss; Retinal exudate; Abnormality of retinal pigmentation; Unilateral strabismus; Optic disc drusen 1 0 0 0 0 0 1
Occult macular dystrophy 0 0 1 0 0 0 1
Retinitis punctata albescens 1 0 0 0 0 0 1
Stargardt disease 1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 54 8 71 20 8 0 161
Illumina Clinical Services Laboratory,Illumina 0 0 52 18 22 0 80
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
OMIM 45 0 0 0 0 0 45
CeGaT Praxis fuer Humangenetik Tuebingen 11 2 4 3 0 0 20
Ocular Genomics Institute, Massachusetts Eye and Ear 7 4 8 0 0 0 19
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 7 5 0 0 0 0 12
GeneDx 9 2 0 1 0 0 12
Sharon lab,Hadassah-Hebrew University Medical Center 3 8 0 0 0 0 11
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 5 2 1 0 9
Mendelics 4 3 0 0 0 0 7
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
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
PreventionGenetics, PreventionGenetics 0 0 0 1 3 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 4 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Molecular Genetics Laboratory,Institute for Ophthalmic Research 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 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
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
Human Genetics - Radboudumc,Radboudumc 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 1

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