ClinVar Miner

Variants studied for retinitis pigmentosa 39

Included ClinVar conditions (2):
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
370 680 654 186 84 2 1766

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
USH2A 358 664 637 183 83 2 1723
LOC122152296, USH2A 12 16 16 3 1 0 42
KCTD3, USH2A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 89 204 469 166 80 0 1008
Baylor Genetics 307 333 17 0 0 0 657
Counsyl 73 171 212 31 0 0 487
Fulgent Genetics, Fulgent Genetics 102 153 83 26 8 0 372
Ocular Genomics Institute, Massachusetts Eye and Ear 19 39 36 0 1 0 95
DBGen Ocular Genomics 6 11 8 0 0 0 25
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 8 3 9 0 0 0 20
SingHealth Duke-NUS Institute of Precision Medicine 3 17 0 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 8 3 1 0 0 0 12
Juno Genomics, Hangzhou Juno Genomics, Inc 10 0 1 0 0 0 11
Genomics England Pilot Project, Genomics England 9 2 0 0 0 0 11
OMIM 7 0 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 3 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 4 2 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 4 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 2 3 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 0 4
3billion, Medical Genetics 2 2 0 0 0 0 4
Pangenia Genomics, Pangenia Inc. 2 0 2 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 1 0 2 0 0 0 3
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 2 0 0 0 3
Department of Genetics, Suzhou Beikang Medical Laboratory 0 3 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Centre for Human Genetics, University of Kinshasa 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Servicio Extremeño de Salud, Hospital de Mérida 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 1 0 0 0 0 1

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