ClinVar Miner

Variants studied for Retinitis pigmentosa 4

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
58 56 17 0 3 119

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
RHO 58 56 17 3 119

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance benign total
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 17 38 7 0 62
OMIM 38 0 0 0 38
Ocular Genomics Institute, Massachusetts Eye and Ear 7 4 8 0 19
3billion 6 2 1 0 9
Mendelics 4 3 0 0 7
SingHealth Duke-NUS Institute of Precision Medicine 4 2 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 2 0 0 5
DBGen Ocular Genomics 1 3 1 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 3 0 0 4
Genome-Nilou Lab 0 0 0 3 3
MGZ Medical Genetics Center 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 1
College of Ophthalmology, Chengdu University of Traditional Chinese Medicine 0 0 1 0 1

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