ClinVar Miner

Variants in gene PRPH2

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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
112 97 154 46 45 89 385

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRPH2-Related Disorders 62 12 64 17 3 0 156
not provided 26 14 14 7 1 88 127
Retinitis pigmentosa 13 20 48 9 26 1 115
Macular dystrophy, patterned, 1 14 7 54 12 17 0 101
Macular dystrophy, vitelliform, adult-onset 7 5 30 4 42 0 88
Cone-rod dystrophy 5 2 37 8 35 0 87
Pigmentary retinal dystrophy 2 2 52 12 17 0 85
Choroidal dystrophy, central areolar 2 4 0 33 5 38 0 80
Retinal dystrophy 17 29 15 0 0 0 61
Stargardt disease 19 14 13 0 0 0 46
Patterned dystrophy of the retinal pigment epithelium 13 10 5 0 0 0 28
Vitelliform macular dystrophy type 2 6 3 3 0 0 0 12
Macular dystrophy 2 6 2 0 0 0 9
Retinitis pigmentosa 7 8 1 0 0 0 0 9
not specified 0 0 0 1 7 0 8
Choroidal Dystrophy 0 0 4 1 0 0 5
Cone-Rod Dystrophy, Dominant 0 0 4 1 0 0 5
Retinitis Pigmentosa, Dominant 0 0 4 1 0 0 5
Vitelliform macular dystrophy 0 0 4 1 0 0 5
maculopathy 2 1 0 0 0 0 3
Cone dystrophy 2 0 0 0 0 0 2
Isolated macular dystrophy 2 0 0 0 0 0 2
Leber congenital amaurosis 18 2 0 0 0 0 0 2
Adult onset vitelliform dystrophy 0 1 0 0 0 0 1
Bestrophinopathy, autosomal recessive 0 1 0 0 0 0 1
Choroidal dystrophy central areolar 1 0 0 0 0 0 1
Choroideremia 1 0 0 0 0 0 1
Doyne honeycomb retinal dystrophy 1 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Pigmentary retinopathy; Macular degeneration; Blurred vision; Abnormality of retinal pigmentation 0 1 0 0 0 0 1
Progressive cone dystrophy (without rod involvement) 1 0 0 0 0 0 1
Retinitis pigmentosa 7, digenic 1 0 0 0 0 0 1
Retinitis punctata albescens, autosomal dominant 1 0 0 0 0 0 1
none provided 0 0 0 1 0 0 1
vitelliform macular dystrophy 3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 62 11 63 21 3 0 160
Retina International 0 0 0 0 0 86 86
Illumina Clinical Services Laboratory,Illumina 0 1 53 28 42 0 83
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 21 33 25 0 0 1 80
Blueprint Genetics 16 27 15 0 0 0 58
CeGaT Praxis fuer Humangenetik Tuebingen 12 6 5 2 0 0 25
OMIM 24 0 0 0 0 0 24
GeneDx 9 5 0 0 6 0 20
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 3 7 6 0 0 0 16
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 8 0 5 0 16
Sharon lab,Hadassah-Hebrew University Medical Center 4 10 0 0 0 0 14
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 3 0 0 0 0 10
Molecular Genetics Laboratory,Institute for Ophthalmic Research 9 0 0 0 0 0 9
Mendelics 5 1 1 0 2 0 9
PreventionGenetics, PreventionGenetics 0 0 0 1 7 0 8
Institute of Medical Molecular Genetics, University of Zurich 0 7 0 0 0 0 7
NIHR Bioresource Rare Diseases, University of Cambridge 1 5 0 0 0 0 6
Department of Ophthalmology and Visual Sciences Kyoto University 3 0 0 1 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 3 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 1 1
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 0 0 1 0 0 0 1

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