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: 4
| 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 |
| GPR179 | 0 | 1 | 0 | 0 | 0 | 1 |
| GRM6, LOC100130798, ZNF454 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| 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 |
| 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 |