ClinVar Miner

Variants in gene PROM1

Minimum submission review status: Collection method:
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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
66 40 258 89 46 3 397

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 44 14 160 42 22 2 276
Cone-rod dystrophy 12 4 6 50 25 36 0 121
Retinitis pigmentosa 3 3 96 3 10 0 115
Stargardt disease 4 3 0 54 29 25 0 111
Retinal macular dystrophy type 2 1 0 82 12 14 0 109
Retinal dystrophy 13 19 20 0 0 0 50
not specified 0 0 3 3 15 0 21
Retinitis pigmentosa 41 10 1 4 0 0 0 15
Cone-Rod Dystrophy, Dominant 0 0 3 2 0 0 5
Retinal Macular Dystrophy 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 4 0 0 0 0 0 4
Cone-rod dystrophy 2 3 0 0 0 0 0 3
Stargardt disease 4; Retinitis pigmentosa 41; Cone-rod dystrophy 12; Retinal macular dystrophy type 2 0 0 3 0 0 0 3
Cone-rod degeneration 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
Stargardt disease 1 0 0 0 0 1 2
Usher syndrome 1 0 1 0 0 0 2
none provided 0 0 0 0 2 0 2
Isolated macular dystrophy 1 0 0 0 0 0 1
Macular dystrophy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 11 139 39 13 0 239
Illumina Clinical Services Laboratory,Illumina 0 1 99 52 36 0 115
Blueprint Genetics 9 13 14 0 0 0 36
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 1 19 1 8 0 32
CeGaT Praxis fuer Humangenetik Tuebingen 8 1 18 3 0 0 30
GeneDx 3 0 2 1 9 0 15
PreventionGenetics, PreventionGenetics 0 0 0 0 12 0 12
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 2 3 6 0 0 0 11
NIHR Bioresource Rare Diseases, University of Cambridge 6 4 0 0 0 0 10
Mendelics 6 0 2 0 0 0 8
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
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 2 2 0 0 0 5
Human Genetics - Radboudumc,Radboudumc 2 0 2 0 0 0 4
Faculty of Health Sciences,Beirut Arab University 4 0 0 0 0 0 4
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 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
Laboratory of Genetics in Ophthalmology,Institut Imagine 3 0 0 0 0 0 3
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 2 2
Columbia University Medical Center,Columbia University 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
Baylor Genetics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare 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
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 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1

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