ClinVar Miner

Variants in gene PRPF8

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 total
19 16 222 125 42 393

Condition and significance breakdown #

Total conditions: 10
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 7 8 139 102 22 270
Retinitis pigmentosa 6 3 65 15 29 118
Retinitis pigmentosa 13 7 4 9 5 10 35
Retinal dystrophy 6 4 15 0 0 25
not specified 0 0 0 2 4 6
Retinitis Pigmentosa, Dominant 0 0 3 0 0 3
Neurodevelopmental abnormality 0 0 1 1 0 2
Autosomal dominant retinitis pigmentosa 1 0 0 0 0 1
Irido-corneo-trabecular dysgenesis 0 0 0 1 0 1
Retinitis pigmentosa 14 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 3 113 102 22 246
Illumina Clinical Services Laboratory,Illumina 0 0 66 15 29 110
Blueprint Genetics 6 3 13 0 0 22
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 12 2 4 18
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 11 1 0 16
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 5 10 15
OMIM 7 0 0 0 0 7
GeneDx 0 0 6 0 0 6
Molecular Genetics Laboratory,Institute for Ophthalmic Research 5 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 0 0 5
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 4 0 0 5
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 1 2 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 0 0 3
Mendelics 0 2 0 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 1 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 1 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 0 1 0 0 1
INSERM U1051, Institut des Neurosciences de Montpellier 0 1 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Faculty of Health Sciences,Beirut Arab University 1 0 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.