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 |
|---|---|---|---|---|---|
| 6 | 5 | 15 | 6 | 1 | 31 |
Condition and significance breakdown #
Total conditions: 4
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 0 | 0 | 4 | 6 | 1 | 11 |
| Dystonia 31 | 6 | 4 | 1 | 0 | 0 | 10 |
| Inborn genetic diseases | 0 | 0 | 10 | 0 | 0 | 10 |
| AOPEP-related disorder | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 10 | 0 | 0 | 10 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 4 | 6 | 0 | 10 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Institute of Human Genetics, University Hospital of Duesseldorf | 2 | 1 | 0 | 0 | 0 | 3 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 2 | 1 | 0 | 0 | 3 |
| PreventionGenetics, part of Exact Sciences | 0 | 1 | 0 | 0 | 0 | 1 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 0 | 0 | 1 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 1 | 0 | 0 | 0 | 0 | 1 |
| Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University | 0 | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 0 | 0 | 0 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 0 | 1 | 1 |