ClinVar Miner

Variants studied for Retinitis pigmentosa 39

Coded as:
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
308 480 520 166 80 1425

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 298 469 506 163 79 1389
LOC122152296, USH2A 10 11 14 3 1 36

Submitter and significance breakdown #

Total submitters: 29
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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 260 277 16 0 0 553
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
Institute of Human Genetics, University of Leipzig Medical Center 7 3 1 0 0 11
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 1 3 0 0 0 4
3billion 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 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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