ClinVar Miner

Variants studied for retinitis pigmentosa 2

Included ClinVar conditions (1):
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
14 10 9 2 1 35

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
RP2 13 10 7 2 1 32
LOC130068202, RP2 1 0 2 0 0 3

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 8 0 0 0 0 8
DBGen Ocular Genomics 2 2 1 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
3billion 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 1

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