ClinVar Miner

Variants in gene PRPH2

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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
285 222 299 129 69 89 776

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRPH2-related disorder 196 42 153 97 8 1 491
not provided 126 109 91 15 35 88 359
Retinal dystrophy 68 67 39 2 14 0 176
Retinitis pigmentosa 14 22 48 9 26 1 118
Patterned macular dystrophy 1 17 12 53 12 17 0 108
Pigmentary retinal dystrophy 5 3 52 12 17 0 89
Choroidal dystrophy, central areolar 2 10 1 33 5 38 0 87
Cone-rod dystrophy 5 2 37 8 35 0 87
Adult-onset foveomacular vitelliform dystrophy 1 6 30 4 42 0 83
Stargardt disease 19 14 13 0 0 0 46
Patterned dystrophy of the retinal pigment epithelium 14 11 5 0 0 0 30
Retinitis pigmentosa 7 10 5 3 0 5 0 23
Vitelliform macular dystrophy 3 8 5 1 0 5 0 19
not specified 0 0 1 11 10 0 18
Inborn genetic diseases 0 0 13 0 0 0 13
Vitelliform macular dystrophy 2 6 3 3 0 0 0 12
Macular dystrophy 3 6 2 0 0 0 10
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
Retinitis pigmentosa 7; Pigmentary retinal dystrophy; Patterned macular dystrophy 1; Choroidal dystrophy, central areolar 2; Vitelliform macular dystrophy 3 2 0 2 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
Autosomal recessive bestrophinopathy 0 1 0 0 0 0 1
Central areolar choroidal dystrophy 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
Multifocal pattern dystrophy simulating fundus flavimaculatus 1 0 0 0 0 0 1
Optic atrophy 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
Usher syndrome 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 195 38 152 97 8 0 490
Leiden Open Variation Database 108 97 56 10 3 0 274
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 50 36 11 1 0 0 98
GeneDx 17 12 22 3 38 0 92
Retina International 0 0 0 0 0 86 86
Illumina Laboratory Services, 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
Dept Of Ophthalmology, Nagoya University 11 9 13 1 14 0 48
CeGaT Center for Human Genetics Tuebingen 17 6 10 4 1 0 38
OMIM 24 0 0 0 0 0 24
PreventionGenetics, part of Exact Sciences 1 3 1 9 7 0 21
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 12 6 0 0 0 0 18
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 7 6 0 0 0 16
Eurofins Ntd Llc (ga) 3 0 8 0 5 0 16
Sharon lab, Hadassah-Hebrew University Medical Center 4 10 0 0 0 0 14
Ambry Genetics 0 0 13 0 0 0 13
Mendelics 7 2 1 1 2 0 13
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 3 0 0 4 0 10
Breakthrough Genomics, Breakthrough Genomics 0 0 5 5 0 0 10
Molecular Genetics Laboratory, Institute for Ophthalmic Research 9 0 0 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 2 5 0 9
Clinical Genetics, Academic Medical Center 4 2 0 1 1 0 8
Institute of Human Genetics, University of Leipzig Medical Center 4 3 1 0 0 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
MGZ Medical Genetics Center 3 2 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
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
Fulgent Genetics, Fulgent Genetics 1 0 1 1 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 0 3
3billion 0 2 1 0 0 0 3
DBGen Ocular Genomics 1 2 0 0 0 0 3
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 2 1 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 0 0 1 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1

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