ClinVar Miner

Variants in gene PRPF8

See also:
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
28 34 535 725 96 1 1326

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 19 21 415 688 84 0 1206
Retinitis pigmentosa 7 3 67 15 29 0 119
Retinal dystrophy 6 11 34 17 23 0 89
Retinitis pigmentosa 13 8 6 21 11 12 1 56
Inborn genetic diseases 0 1 25 0 0 0 26
not specified 0 0 0 2 8 0 10
PRPF8-related condition 0 0 0 8 1 0 9
Retinitis Pigmentosa, Dominant 0 0 3 0 0 0 3
Developmental disorder 0 0 1 1 0 0 2
Neurodevelopmental abnormality 0 0 1 1 0 0 2
Autosomal dominant retinitis pigmentosa 1 0 0 0 0 0 1
Irido-corneo-trabecular dysgenesis 0 0 0 1 0 0 1
Retinitis pigmentosa 14 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 7 350 681 84 0 1140
Illumina Laboratory Services, Illumina 0 0 66 15 29 0 110
Dept Of Ophthalmology, Nagoya University 0 8 20 17 23 0 68
GeneDx 2 5 48 1 3 0 59
CeGaT Center for Human Genetics Tuebingen 1 5 11 12 1 0 30
Ambry Genetics 0 1 25 0 0 0 26
Blueprint Genetics 6 2 13 0 0 0 21
Eurofins Ntd Llc (ga) 0 0 12 2 4 0 18
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 5 10 0 15
Fulgent Genetics, Fulgent Genetics 0 1 2 6 2 0 11
PreventionGenetics, part of Exact Sciences 0 0 0 8 1 0 9
OMIM 7 0 0 0 0 0 7
Molecular Genetics Laboratory, Institute for Ophthalmic Research 5 0 0 0 0 0 5
Clinical Genetics, Academic Medical Center 0 0 1 0 4 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 0 0 5
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 4 0 0 0 5
DBGen Ocular Genomics 0 0 5 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 4 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 2 2 0 0 4
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 2 0 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 0 2
Mendelics 0 2 0 0 0 0 2
Sharon lab, Hadassah-Hebrew University Medical Center 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
INSERM U1051, Institut des Neurosciences de Montpellier 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 0 1
Faculty of Health Sciences, Beirut Arab University 1 0 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.