ClinVar Miner

Variants studied for Retinitis pigmentosa 39

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
349 543 521 166 80 1516

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
USH2A 338 529 507 163 79 1477
LOC122152296, USH2A 11 14 14 3 1 39

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 89 204 469 166 80 1008
Baylor Genetics 307 333 17 0 0 657
Ocular Genomics Institute, Massachusetts Eye and Ear 19 39 36 0 1 95
Counsyl 23 19 1 0 0 43
DBGen Ocular Genomics 6 11 8 0 0 25
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 8 3 9 0 0 20
SingHealth Duke-NUS Institute of Precision Medicine 3 17 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 8 3 1 0 0 12
Genomics England Pilot Project, Genomics England 9 2 0 0 0 11
OMIM 7 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 3 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 4 2 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 4 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 2 3 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 4
3billion, Medical Genetics 2 2 0 0 0 4
Pangenia Genomics, Pangenia Inc. 2 0 2 0 0 4
Institute of Human Genetics, University Hospital Muenster 1 0 2 0 0 3
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 2 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 2
Centre for Human Genetics, University of Kinshasa 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Servicio Extremeño de Salud, Hospital de Mérida 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 1 0 0 0 1

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