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
187 105 252 369 25 846

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 186 105 252 369 25 845
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 148 28 196 352 20 744
Baylor Genetics 60 33 0 0 0 93
ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen 38 16 8 7 6 75
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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 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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