ClinVar Miner

Variants studied for PDE6A-related retinopathy

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 total
23 10 15 1 8 53

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PDE6A 23 10 15 1 8 53

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 2 2 7 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 6 9
Ocular Genomics Institute, Massachusetts Eye and Ear 3 4 2 0 0 9
OMIM 8 0 0 0 0 8
DBGen Ocular Genomics 4 1 1 0 0 6
Revvity Omics, Revvity 1 2 0 0 0 3
Mendelics 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 3
MGZ Medical Genetics Center 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 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.