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 | risk factor | total |
|---|---|---|---|---|---|---|
| 3 | 3 | 2 | 0 | 1 | 3 | 11 |
Gene and significance breakdown #
Total genes and gene combinations: 6
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | risk factor | total |
|---|---|---|---|---|---|---|
| APOA5 | 2 | 1 | 1 | 0 | 2 | 5 |
| CREB3L3 | 1 | 1 | 0 | 0 | 0 | 2 |
| APOA5, LOC108491825 | 0 | 0 | 0 | 0 | 1 | 1 |
| APOA5, ZPR1 | 0 | 1 | 0 | 0 | 0 | 1 |
| LIPI | 0 | 0 | 1 | 0 | 0 | 1 |
| RP1 | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | risk factor | total |
|---|---|---|---|---|---|---|
| OMIM | 0 | 0 | 1 | 1 | 3 | 5 |
| GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation | 1 | 1 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 1 | 0 | 0 | 0 | 1 |
| Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile | 1 | 0 | 0 | 0 | 0 | 1 |
| DASA | 0 | 1 | 0 | 0 | 0 | 1 |