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 |
|---|---|---|---|---|---|
| 1 | 3 | 1 | 0 | 0 | 5 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| PAX6 | 1 | 2 | 0 | 3 |
| TBC1D32 | 0 | 1 | 1 | 2 |
Submitter and significance breakdown #
Total submitters: 4
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University | 0 | 1 | 1 | 2 |
| Institute of Human Genetics, University Hospital of Duesseldorf | 0 | 1 | 0 | 1 |
| OMIM | 1 | 0 | 0 | 1 |
| Rare Disease Group, Clinical Genetics, Karolinska Institutet | 0 | 1 | 0 | 1 |