ClinVar Miner

Variants studied for Leber congenital amaurosis 5

Included ClinVar conditions (1):
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 32 128 16 7 3 205

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LCA5 28 32 128 16 7 3 204
LCA5, LOC129996749, SH3BGRL2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
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 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.