ClinVar Miner

Variants studied for Retinitis pigmentosa 40

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
22 21 23 0 2 2 65

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
PDE6B 21 21 23 2 2 64
ATP5ME, MYL5, PDE6B, SLC49A3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Ocular Genomics Institute, Massachusetts Eye and Ear 4 3 6 0 0 13
Molecular Genetics Laboratory, Institute for Ophthalmic Research 2 5 3 0 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 7 1 1 0 0 9
OMIM 7 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 6 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 2 0 0 3
3billion 0 2 1 0 0 3
DBGen Ocular Genomics 1 2 0 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 2 2
Genome-Nilou Lab 0 0 0 2 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
Molecular Medicine, University of Pavia 0 0 1 0 0 1
Human Genetics, Hazara University Mansehra 0 1 0 0 0 1

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