ClinVar Miner

Variants studied for LCA5-related retinopathy

Included ClinVar conditions (1):
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
32 53 129 16 7 3 229

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
LCA5 31 52 129 16 7 3 227
LCA5, LOC129996749, SH3BGRL2 1 0 0 0 0 0 1
POU1F1 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 1 0 87 5 7 0 100
Natera, Inc. 4 2 46 11 3 0 66
Baylor Genetics 17 36 1 0 0 0 54
Fulgent Genetics, Fulgent Genetics 6 11 4 0 0 0 21
Laboratory of Genetics in Ophthalmology, Institut Imagine 11 3 0 0 0 0 14
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 3 0 0 0 0 0 3
DBGen Ocular Genomics 3 0 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 0 0 0 2
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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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