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 |
|---|---|---|---|---|---|---|
| 10 | 4 | 5 | 0 | 7 | 11 | 28 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| HTRA1 | 10 | 4 | 5 | 3 | 8 | 24 |
| ARMS2, HTRA1 | 0 | 0 | 0 | 4 | 3 | 4 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| GeneReviews | 1 | 0 | 0 | 0 | 11 | 12 |
| OMIM | 7 | 0 | 0 | 0 | 0 | 7 |
| Athena Diagnostics | 0 | 0 | 0 | 4 | 0 | 4 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 2 | 0 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 3 | 0 | 3 |
| UniProtKB/Swiss-Prot | 0 | 0 | 0 | 0 | 2 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Center of Genomic medicine, Geneva, University Hospital of Geneva | 0 | 0 | 1 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Clinical Laboratory, Peking University People's Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 1 | 0 | 0 | 0 | 1 |
| Istanbul Faculty of Medicine, Istanbul University | 0 | 1 | 0 | 0 | 0 | 1 |
| Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University | 1 | 0 | 0 | 0 | 0 | 1 |