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
33 22 37 48 19 97 198

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 7 6 9 34 14 97 147
Leber congenital amaurosis 2; Retinitis pigmentosa 20 11 4 5 9 2 0 31
Leber congenital amaurosis 6 4 14 4 0 0 27
Leber congenital amaurosis 2 12 5 2 0 0 0 19
Retinitis Pigmentosa, Recessive 0 0 14 4 0 0 18
not specified 0 0 1 2 8 0 11
Retinitis pigmentosa 20 7 2 2 0 0 0 10
Retinitis pigmentosa 5 1 1 0 0 0 7
Adrenocorticotropic hormone deficiency 1 0 3 0 0 0 4
Retinal dystrophy 0 2 1 0 0 0 3
RPE65-Related Disorders 1 1 0 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
RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Retina International 0 0 0 0 0 97 97
Invitae 9 4 3 34 14 0 64
Illumina Clinical Services Laboratory,Illumina 1 1 14 4 0 0 20
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
Mendelics 4 3 1 0 0 0 8
Human Genetics - Radboudumc,Radboudumc 2 1 3 0 0 0 6
Cytogenetics and Genomics Laboratory,Medical University of South Carolina 2 4 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 1 0 0 5
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 2 1 1 0 0 0 4
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 3 0 0 0 4
PreventionGenetics,PreventionGenetics 0 0 0 0 4 0 4
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 2 0 0 0 0 0 2
Rui Chen Lab,Baylor College of Medicine 2 0 0 0 0 0 2
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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1

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