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 | not provided | total |
|---|---|---|---|---|---|---|
| 12 | 5 | 1 | 0 | 0 | 1 | 17 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| PRNP | 12 | 5 | 1 | 1 | 17 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| OMIM | 12 | 0 | 0 | 0 | 12 |
| 3billion | 0 | 1 | 1 | 0 | 2 |
| Centre de Genetique Humaine, Institut de Pathologie et de Genetique | 0 | 1 | 0 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 0 | 1 | 0 | 0 | 1 |
| GeneReviews | 0 | 0 | 0 | 1 | 1 |
| Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University | 0 | 1 | 0 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 1 | 0 | 0 | 1 |