ClinVar Miner

Variants studied for Leber congenital amaurosis 10

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 not provided total
25 9 122 7 6 1 165

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 not provided total
CEP290 25 8 117 7 6 1 159
CEP290, RLIG1 0 0 5 0 0 0 5
CEP290, LOC129390514 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 117 7 6 0 130
Ocular Genomics Institute, Massachusetts Eye and Ear 6 5 0 0 0 0 11
OMIM 5 0 0 0 0 0 5
DBGen Ocular Genomics 3 0 2 0 0 0 5
Molecular Diagnostics Laboratory, Seoul National University Hospital 4 0 0 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 1 1 2 0 0 0 4
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 1 0 0 0 1

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