ClinVar Miner

Variants studied for Leber congenital amaurosis 14

Included ClinVar conditions (5):
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
14 8 78 2 6 108

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
LRAT 8 8 78 2 6 102
ALMS1 4 0 0 0 0 4
ABCA4 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 70 2 6 78
Laboratory of Genetics in Ophthalmology, Institut Imagine 7 4 0 0 0 11
OMIM 5 0 0 0 0 5
DBGen Ocular Genomics 2 1 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 3
3billion 0 1 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 2
Chongqing Key Laboratory of Prevention and Treatment of Major Blinding Diseases, The First Affiliated Hospital of Chongqing Medical University 0 0 1 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 1 0 0 1
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1

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