ClinVar Miner

Variants in gene PRPF31

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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
204 117 275 206 46 767

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 147 24 198 192 37 584
Retinal dystrophy 42 49 39 6 13 144
Retinitis pigmentosa 31 27 35 8 13 113
Retinitis pigmentosa 11 26 29 15 3 4 75
Inborn genetic diseases 0 0 27 1 0 28
PRPF31-related disorder 4 0 3 15 1 23
Retinitis Pigmentosa, Dominant 0 0 3 0 0 3
not specified 0 0 1 0 2 3
Leber congenital amaurosis 0 0 1 0 0 1
See cases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 132 13 173 189 28 535
Illumina Laboratory Services, Illumina 0 0 37 8 13 58
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 36 9 12 1 0 58
Blueprint Genetics 7 24 16 0 0 47
GeneDx 10 1 18 0 11 40
Dept Of Ophthalmology, Nagoya University 2 9 10 5 13 39
CeGaT Center for Human Genetics Tuebingen 13 5 11 2 1 32
Ambry Genetics 0 0 27 1 0 28
PreventionGenetics, part of Exact Sciences 4 0 3 15 1 23
Breakthrough Genomics, Breakthrough Genomics 0 0 4 2 17 23
Molecular Genetics Laboratory, Institute for Ophthalmic Research 16 0 0 0 0 16
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 9 4 0 0 15
Eurofins Ntd Llc (ga) 4 0 9 0 1 14
Ocular Genomics Institute, Massachusetts Eye and Ear 0 12 2 0 0 14
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 5 0 0 0 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 7 2 0 0 11
Mendelics 8 1 1 0 0 10
3billion 4 5 1 0 0 10
OMIM 9 0 0 0 0 9
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 5 3 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 3 0 1 6
NIHR Bioresource Rare Diseases, University of Cambridge 0 6 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 3 5
Clinical Genetics, Academic Medical Center 0 0 3 1 1 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 1 0 4
Fulgent Genetics, Fulgent Genetics 0 2 0 1 1 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 1 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 0 4
DBGen Ocular Genomics 1 1 2 0 0 4
Department of Ophthalmology and Visual Sciences Kyoto University 0 3 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 1 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 3 0 0 0 0 3
MVZ Medizinische Genetik Mainz 2 1 0 0 0 3
INSERM U1051, Institut des Neurosciences de Montpellier 1 1 0 0 0 2
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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