ClinVar Miner

Variants studied for Leber congenital amaurosis 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
96 69 59 9 11 228

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RPE65 96 69 59 9 11 228

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
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
Mendelics 6 3 0 0 1 10
SIB Swiss Institute of Bioinformatics 0 5 4 0 0 9
Genome-Nilou Lab 1 0 3 1 4 9
DBGen Ocular Genomics 4 1 3 0 0 8
OMIM 7 0 0 0 0 7
3billion 3 2 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 2
Department of Medical Genetics, Erciyes University Faculty of Medicine 2 0 0 0 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
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
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 1

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