ClinVar Miner

Variants studied for retinitis pigmentosa 1

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
32 28 20 11 11 98

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 total
RP1 28 22 18 10 8 83
LOC126860392, RP1 4 5 1 1 3 13
ABCA4 0 1 1 0 0 2

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 6 5 14
Revvity Omics, Revvity 3 2 6 0 0 11
Ocular Genomics Institute, Massachusetts Eye and Ear 4 7 0 0 0 11
DBGen Ocular Genomics 3 4 2 0 0 9
Fulgent Genetics, Fulgent Genetics 0 1 3 4 0 8
OMIM 6 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 0 2 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 4
MGZ Medical Genetics Center 0 1 2 0 0 3
3billion 2 1 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Pangenia Genomics, Pangenia Inc. 1 1 0 0 0 2
Mendelics 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
Department of Medical Genetics, Gazi University 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 1 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1

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