ClinVar Miner

Variants studied for Leber congenital amaurosis 5

Coded as:
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 not provided total
29 31 128 16 7 3 204

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 not provided total
LCA5 28 31 128 16 7 3 203
LCA5, LOC129996749, SH3BGRL2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 87 5 7 0 100
Natera, Inc. 4 2 46 11 3 0 66
Baylor Genetics 14 26 1 0 0 0 41
Laboratory of Genetics in Ophthalmology, Institut Imagine 11 3 0 0 0 0 14
Fulgent Genetics, Fulgent Genetics 2 0 4 0 0 0 6
Genome-Nilou Lab 0 0 0 0 5 0 5
OMIM 4 0 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 0 0 0 4
GeneReviews 1 0 0 0 0 3 4
Revvity Omics, Revvity Omics 3 0 0 0 0 0 3
DBGen Ocular Genomics 3 0 0 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1

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