ClinVar Miner

Variants studied for RPE65-related recessive retinopathy

Included ClinVar conditions (6):
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
194 117 252 369 25 857

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RPE65 193 117 252 369 25 856
DEPDC1, RPE65 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 149 28 196 352 20 745
ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen 56 26 9 13 8 112
Baylor Genetics 72 39 0 0 0 111
Illumina Laboratory Services, Illumina 1 0 50 8 7 66
Laboratory of Genetics in Ophthalmology, Institut Imagine 27 22 0 0 0 49
Fulgent Genetics, Fulgent Genetics 8 2 4 3 1 18
Counsyl 2 0 2 9 2 15
OMIM 11 0 1 0 0 12
Mendelics 6 3 0 0 1 10
Ocular Genomics Institute, Massachusetts Eye and Ear 4 3 3 0 0 10
DBGen Ocular Genomics 6 1 3 0 0 10
SIB Swiss Institute of Bioinformatics 0 5 4 0 0 9
Genome-Nilou Lab 1 0 3 1 4 9
3billion 4 3 0 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 2 0 0 5
Genetics and Molecular Pathology, SA Pathology 2 1 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Pars Genome Lab 1 0 0 1 0 2
MGZ Medical Genetics Center 1 0 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 1

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