ClinVar Miner

Variants studied for GRM6-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
10 3 3 4 9 29

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GRM6, ZNF454 6 2 1 3 8 20
GRM6 4 1 1 1 1 8
GRM6, LOC100130798, ZNF454 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 8 0 0 0 0 8
Genome-Nilou Lab 0 0 0 0 8 8
Revvity Omics, Revvity 2 1 1 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 3
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
MGZ Medical Genetics Center 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 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.