ClinVar Miner

Variants studied for PRPF31-related retinopathy

Included ClinVar conditions (1):
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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
21 23 13 2 4 61

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PRPF31 17 23 12 2 4 56
PRPF31, TFPT 2 0 1 0 0 3
NDUFA3, PRPF31, TFPT 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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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
Fulgent Genetics, Fulgent Genetics 0 2 0 1 1 4
DBGen Ocular Genomics 1 1 2 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 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 Medical Genetics and Applied Genomics, University Hospital Tübingen 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

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