ClinVar Miner

Variants in gene RPE65

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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
85 62 157 97 22 98 398

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Leber congenital amaurosis 2; Retinitis pigmentosa 20 56 19 67 87 15 0 237
Leber congenital amaurosis 2 34 31 55 9 7 0 133
not provided 11 8 10 9 0 97 121
Retinitis pigmentosa 5 1 55 5 7 0 73
Leber congenital amaurosis 17 5 19 4 7 0 51
Retinitis pigmentosa 20 10 5 7 0 0 0 21
Retinal dystrophy 10 6 5 0 0 0 20
not specified 0 0 1 2 8 0 11
Autosomal recessive retinitis pigmentosa 9 0 0 0 0 0 9
RPE65-Related Disorders 2 1 0 0 0 2 5
Adrenocorticotropic hormone deficiency 1 0 3 0 0 0 4
Retinitis Pigmentosa, Recessive 0 0 2 0 0 0 2
Autistic disorder of childhood onset; Global developmental delay; Nystagmus; Retinal dystrophy; Rod-cone dystrophy 1 0 0 0 0 0 1
Cone-rod dystrophy 0 0 1 0 0 0 1
Congenital blindness; Abnormality of vision; Abnormal electroretinogram; Retinal degeneration 1 0 0 0 0 0 1
Joubert syndrome 9 0 0 0 0 1 0 1
Retinitis pigmentosa 20; Leber congenital amaurosis; RPE65-Related Disorders 1 0 0 0 0 0 1
Retinitis pigmentosa 87 with choroidal involvement 1 0 0 0 0 0 1
none provided 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 56 18 65 82 14 0 235
Retina International 0 0 0 0 0 97 97
Illumina Clinical Services Laboratory,Illumina 2 1 56 9 7 0 70
Laboratory of Genetics in Ophthalmology,Institut Imagine 27 22 0 0 0 0 49
Natera, Inc. 11 0 17 4 7 0 39
Blueprint Genetics 10 5 4 0 0 0 19
Counsyl 2 0 2 9 2 0 15
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 7 1 4 0 15
OMIM 12 0 1 0 0 0 13
GeneDx 4 3 1 0 4 0 12
Ocular Genomics Institute, Massachusetts Eye and Ear 4 3 3 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 4 1 3 1 0 0 9
SIB Swiss Institute of Bioinformatics 0 5 4 0 0 0 9
Faculty of Health Sciences,Beirut Arab University 9 0 0 0 0 0 9
Mendelics 4 3 1 0 0 0 8
Human Genetics - Radboudumc,Radboudumc 2 1 3 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 3 0 0 0 0 6
Cytogenetics and Genomics Laboratory,Medical University of South Carolina 2 4 0 0 0 0 6
Molecular Genetics Laboratory,Institute for Ophthalmic Research 2 0 3 0 0 0 5
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 2 1 1 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 0 4 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 2 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 0 3
Sharon lab,Hadassah-Hebrew University Medical Center 3 0 0 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Rui Chen Lab,Baylor College of Medicine 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 1 0 2
Baylor Genetics 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
INSERM U1051, Institut des Neurosciences de Montpellier 0 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Farrar Lab, Smurfit Institute of Genetics,Trinity College Dublin 1 0 0 0 0 0 1
Institute of Vision Research, Yonsei University College of Medicine 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1

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