ClinVar Miner

Variants studied for retinitis pigmentosa 4

Included ClinVar conditions (3):
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
55 55 16 0 3 2 116

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
RHO 55 55 16 3 2 116

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 17 38 7 0 0 62
OMIM 38 0 0 0 0 38
Ocular Genomics Institute, Massachusetts Eye and Ear 7 4 8 0 0 19
Mendelics 4 3 0 0 0 7
DBGen Ocular Genomics 1 3 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 3 0 0 0 4
3billion 3 1 0 0 0 4
Genome-Nilou Lab 0 0 0 3 0 3
Fulgent Genetics, Fulgent Genetics 1 0 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 2 2
MGZ Medical Genetics Center 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 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 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 1

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