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 |
|---|---|---|---|---|---|
| 10 | 9 | 10 | 0 | 3 | 32 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| HTRA1 | 9 | 9 | 10 | 3 | 31 |
| ARMS2, HTRA1 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Taipei Veterans General Hospital, Neurological Institute | 3 | 4 | 0 | 0 | 7 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 4 | 0 | 5 |
| OMIM | 4 | 0 | 0 | 0 | 4 |
| 3billion, Medical Genetics | 2 | 1 | 1 | 0 | 4 |
| Genome-Nilou Lab | 0 | 0 | 0 | 3 | 3 |
| MGZ Medical Genetics Center | 0 | 1 | 1 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 0 | 0 | 1 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 0 | 1 | 0 | 0 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 0 | 1 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 1 |
| Clinical Genetics Service, Universitary Hospital 12 de Octubre | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 0 | 0 | 1 | 0 | 1 |