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 |
|---|---|---|---|---|---|
| 5 | 4 | 2 | 4 | 5 | 19 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| RPGR | 5 | 4 | 2 | 4 | 5 | 19 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 3 | 0 | 1 | 4 | 2 | 10 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 3 | 3 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Medical Molecular Genetics, University of Zurich | 1 | 0 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 0 | 1 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 1 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 1 | 0 | 0 | 0 | 1 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |