ClinVar Miner

Variants studied for Retinitis pigmentosa 39

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
353 553 531 166 80 1533

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 342 537 516 163 79 1492
LOC122152296, USH2A 11 16 15 3 1 41

Submitter and significance breakdown #

Total submitters: 36
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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 307 332 18 0 0 657
Ocular Genomics Institute, Massachusetts Eye and Ear 19 39 36 0 1 95
3billion 17 15 12 0 0 44
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 11 4 1 0 0 16
Genomics England Pilot Project, Genomics England 9 2 0 0 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 5 0 0 0 8
Medical and Scientific Branch, Hong Kong Genome Institute 3 5 0 0 0 8
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
Neuberg Centre For Genomic Medicine, NCGM 0 2 3 0 0 5
Pangenia Genomics, Pangenia Inc. 2 0 2 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 4
Centre of Medical 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
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 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
UCLA Clinical Genomics Center, UCLA 0 1 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

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