ClinVar Miner

Variants studied for GRM6-related retinopathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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 total
10 4 3 4 9 30

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 total
GRM6, ZNF454 6 2 2 3 8 21
GRM6 4 1 1 1 1 8
GPR179 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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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
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research 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

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