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
28 18 35 13 9 97 156

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 7 6 7 0 0 97 109
Leber congenital amaurosis 2; Retinitis pigmentosa 20 11 4 5 9 4 0 31
Leber congenital amaurosis 4 4 14 4 0 0 25
Retinitis Pigmentosa, Recessive 0 0 14 4 0 0 18
Leber congenital amaurosis 2 8 2 1 0 0 0 11
not specified 0 0 1 1 8 0 10
Retinitis pigmentosa 20 7 1 2 0 0 0 9
Retinitis pigmentosa 4 1 1 0 0 0 6
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
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

Submitter and significance breakdown #

Total submitters: 22
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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
Illumina Clinical Services Laboratory,Illumina 1 1 14 4 0 0 20
Invitae 9 4 3 0 3 0 19
Counsyl 2 0 2 9 2 0 15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 7 1 4 0 15
OMIM 11 0 1 0 0 0 12
GeneDx 4 3 1 0 4 0 12
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
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 0 0 0 0 4 0 4
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 0 0 0 2
NIHR Bioresource Rare Diseases,University of Cambridge 0 2 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
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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