ClinVar Miner

Variants studied for Leber congenital amaurosis 2

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
193 115 287 401 25 934

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RPE65 192 115 286 401 25 932
CTNND1, TMX2-CTNND1 0 0 1 0 0 1
DEPDC1, RPE65 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 160 31 238 387 20 836
Baylor Genetics 72 39 0 0 0 111
Illumina Laboratory Services, Illumina 1 0 50 8 7 66
Fulgent Genetics, Fulgent Genetics 20 22 4 3 1 50
Laboratory of Genetics in Ophthalmology, Institut Imagine 27 22 0 0 0 49
Counsyl 2 0 2 9 2 15
3billion 6 3 1 0 0 10
Mendelics 6 3 0 0 1 10
Genome-Nilou Lab 1 0 3 1 4 9
SIB Swiss Institute of Bioinformatics 0 5 4 0 0 9
DBGen Ocular Genomics 4 1 3 0 0 8
OMIM 7 0 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 2 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 3
Department of Medical Genetics, Erciyes University Faculty of Medicine 2 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 2
Blueprint Genetics 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 0 1 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 1

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