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 |
|---|---|---|---|---|---|---|---|
| 12 | 22 | 0 | 15 | 9 | 0 | 7 | 29 |
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 | ||||||
|---|---|---|---|---|---|---|
| Clingen Thrombosis Variant Curation Expert Panel, |
pathogenic | likely pathogenic | uncertain significance | likely benign | benign | |
| pathogenic | 0 | 9 | 3 | 2 | 0 | |
| likely pathogenic | 5 | 0 | 1 | 0 | 1 | |
| uncertain significance | 0 | 2 | 0 | 2 | 0 | |
| likely benign | 0 | 0 | 7 | 0 | 1 | |
Submitter to submitter summary #
Total submitters: 11
| 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 |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 26 | 0 | 4 | 3 | 0 | 3 | 10 |
| Illumina Laboratory Services, Illumina | 0 | 6 | 0 | 0 | 7 | 0 | 1 | 8 |
| NIHR Bioresource Rare Diseases, University of Cambridge | 0 | 1 | 0 | 5 | 0 | 0 | 2 | 7 |
| OMIM | 0 | 9 | 0 | 4 | 0 | 0 | 1 | 5 |
| ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology | 0 | 2 | 0 | 4 | 0 | 0 | 0 | 4 |
| Fulgent Genetics, Fulgent Genetics | 0 | 3 | 0 | 0 | 2 | 0 | 1 | 3 |
| CSER _CC_NCGL, University of Washington | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| Revvity Omics, Revvity | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| 3billion | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
All variants with conflicting interpretations #
Total variants: 29