If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.
| Variants with only 1 submission per condition | Variants with at least 2 submissions on the same condition and no conflicts |
Variants with a synonymous conflict (e.g. benign vs non-pathogenic) |
Variants with a confidence conflict (e.g. benign vs likely benign) |
Variants with a benign or likely benign vs uncertain conflict |
Variants with a category conflict (e.g. benign vs affects) |
Variants with a clinically significant conflict (e.g. benign vs pathogenic) |
Variants with any conflict |
|---|---|---|---|---|---|---|---|
| 34 | 1 | 0 | 11 | 0 | 0 | 8 | 19 |
Significance breakdown #
In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.
| All submitters | ||||
|---|---|---|---|---|
| Houlden Lab, |
pathogenic | likely pathogenic | uncertain significance | |
| pathogenic | 0 | 5 | 1 | |
| likely pathogenic | 6 | 0 | 6 | |
| uncertain significance | 1 | 1 | 0 | |
Submitter to submitter summary #
Total submitters: 13
| Submitter | Variants with only 1 submission per condition | Variants with at least 2 submissions on the same condition and no conflicts |
Variants with a synonymous conflict (e.g. benign vs non-pathogenic) |
Variants with a confidence conflict (e.g. benign vs likely benign) |
Variants with a benign or likely benign vs uncertain conflict |
Variants with a category conflict (e.g. benign vs affects) |
Variants with a clinically significant conflict (e.g. benign vs pathogenic) |
Variants with any conflict |
|---|---|---|---|---|---|---|---|---|
| OMIM | 0 | 1 | 0 | 4 | 0 | 0 | 1 | 5 |
| Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet | 0 | 0 | 0 | 1 | 0 | 0 | 2 | 3 |
| GeneDx | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| 3billion, Medical Genetics | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
All variants with conflicting interpretations #
Total variants: 19