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 |
|---|---|---|---|---|---|
| 2 | 2 | 10 | 0 | 3 | 15 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| RGR | 2 | 2 | 10 | 3 | 15 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 3 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 2 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 2 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 2 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 1 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 0 | 1 | 1 |
| Institute of Medical Molecular Genetics, University of Zurich | 0 | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 1 |
| 3billion | 0 | 0 | 1 | 0 | 1 |
| Department of Medical Genetics, Erciyes University Faculty of Medicine | 0 | 0 | 1 | 0 | 1 |