ClinVar Miner

Variants in gene PROM1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
110 57 551 320 83 6 977

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 90 23 439 275 71 2 869
Cone-rod dystrophy 12 10 10 50 25 38 0 131
Retinitis pigmentosa 4 3 96 3 10 0 116
Stargardt disease 4 4 0 54 29 27 0 114
Retinal macular dystrophy type 2 2 0 83 12 16 0 113
Retinal dystrophy 17 21 51 9 4 0 100
Inborn genetic diseases 0 0 26 1 0 0 27
Retinitis pigmentosa 41 13 4 5 0 5 0 27
not specified 0 0 3 3 15 0 21
PROM1-related condition 2 1 2 10 3 0 18
Cone-rod dystrophy 9 1 0 0 0 0 10
Stargardt disease 4; Retinitis pigmentosa 41; Cone-rod dystrophy 12; Retinal macular dystrophy type 2 2 0 7 0 1 0 10
Stargardt disease 7 0 0 0 0 1 8
Cone-Rod Dystrophy, Dominant 0 0 3 2 0 0 5
Macular dystrophy, retinal 0 0 3 2 0 0 5
Retinitis Pigmentosa, Recessive 0 0 3 2 0 0 5
Stargardt Disease, Dominant 0 0 3 2 0 0 5
Autosomal recessive retinitis pigmentosa 4 0 0 0 0 0 4
Cone-rod dystrophy 2 3 0 0 0 0 0 3
Leber congenital amaurosis 2 0 0 0 0 0 2
Leber congenital amaurosis 1 2 0 0 0 0 0 2
PROM1-Related Disorders 0 1 1 0 0 0 2
Retinitis pigmentosa 41; Retinal macular dystrophy type 2 0 0 0 0 0 2 2
Usher syndrome 1 0 1 0 0 0 2
Isolated macular dystrophy 1 0 0 0 0 0 1
Macular dystrophy 1 0 0 0 0 0 1
Retinitis pigmentosa 41; Cone-rod dystrophy 12; Retinal macular dystrophy type 2 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 84 16 406 264 46 0 816
Illumina Laboratory Services, Illumina 0 1 99 52 36 0 115
GeneDx 5 3 16 4 37 0 65
Dept Of Ophthalmology, Nagoya University 4 2 32 9 4 0 51
CeGaT Center for Human Genetics Tuebingen 11 1 22 10 0 0 44
Blueprint Genetics 9 13 14 0 0 0 36
Eurofins Ntd Llc (ga) 3 1 19 1 8 0 32
PreventionGenetics, part of Exact Sciences 2 1 2 10 15 0 30
Ambry Genetics 0 0 26 1 0 0 27
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 2 3 6 0 0 0 11
Fulgent Genetics, Fulgent Genetics 2 0 7 0 1 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 5 0 2 0 3 0 10
NIHR Bioresource Rare Diseases, University of Cambridge 6 4 0 0 0 0 10
Mendelics 7 0 2 0 0 0 9
OMIM 7 0 0 0 0 0 7
Molecular Genetics Laboratory, Institute for Ophthalmic Research 7 0 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 3 0 7
Revvity Omics, Revvity 0 2 5 0 0 0 7
Clinical Genetics, Academic Medical Center 3 1 0 2 1 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 1 3 0 0 6
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 5 1 0 0 0 0 6
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 6 0 0 0 0 0 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 2 2 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 2 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 0 4
Faculty of Health Sciences, Beirut Arab University 4 0 0 0 0 0 4
3billion 2 2 0 0 0 0 4
DBGen Ocular Genomics 3 1 0 0 0 0 4
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 1 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Laboratory of Genetics in Ophthalmology, Institut Imagine 3 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 1 0 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 2 0 0 0 0 0 2
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 2 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 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
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1

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