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 |
|---|---|---|---|---|---|---|---|
| 78 | 10 | 0 | 16 | 0 | 0 | 5 | 21 |
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 | ||||
|---|---|---|---|---|
| Tartaglia Lab, |
pathogenic | likely pathogenic | uncertain significance | |
| pathogenic | 0 | 6 | 4 | |
| likely pathogenic | 10 | 0 | 1 | |
Submitter to submitter summary #
Total submitters: 12
| 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 | 2 | 0 | 8 | 0 | 0 | 0 | 8 |
| GeneDx | 0 | 3 | 0 | 1 | 0 | 0 | 2 | 3 |
| University of Washington Center for Mendelian Genomics, University of Washington | 0 | 4 | 0 | 3 | 0 | 0 | 0 | 3 |
| Cole/Wambach Lab, Washington University in St. Louis | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 3 |
| Baylor Genetics | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| MGZ Medical Genetics Center | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| DESAM Institute, Near East University | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
All variants with conflicting interpretations #
Total variants: 21