ClinVar Miner

Variants studied for PRPF31-related retinopathy

Included ClinVar conditions (1):
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
26 24 15 3 4 70

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PRPF31 22 24 14 3 4 65
PRPF31, TFPT 2 0 1 0 0 3
NDUFA3, PRPF31, TFPT 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ocular Genomics Institute, Massachusetts Eye and Ear 0 12 2 0 0 14
OMIM 9 0 0 0 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 0 3 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 3 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 2 1 0 0 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
DBGen Ocular Genomics 1 1 2 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 1 0 0 3
MVZ Medizinische Genetik Mainz 2 1 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 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
Mendelics 1 0 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 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.