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 |
---|---|---|---|---|---|---|---|
23 | 18 | 0 | 9 | 3 | 3 | 5 | 16 |
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 | |||||||
---|---|---|---|---|---|---|---|
Clinical Genomics Labs, |
pathogenic | likely pathogenic | uncertain significance | likely benign | benign | risk factor | |
pathogenic | 0 | 1 | 1 | 0 | 0 | 2 | |
likely pathogenic | 5 | 0 | 0 | 0 | 0 | 0 | |
uncertain significance | 2 | 2 | 0 | 2 | 1 | 1 | |
likely benign | 0 | 0 | 1 | 0 | 3 | 0 |
Submitter to submitter summary #
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 |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia | 0 | 13 | 0 | 5 | 0 | 0 | 2 | 7 |
Illumina Laboratory Services, Illumina | 0 | 1 | 0 | 3 | 2 | 0 | 1 | 6 |
ClinGen VHL Variant Curation Expert Panel, ClinGen | 0 | 3 | 0 | 4 | 1 | 0 | 0 | 5 |
OMIM | 0 | 3 | 0 | 0 | 0 | 3 | 1 | 4 |
Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 6 | 0 | 2 | 1 | 0 | 1 | 4 |
Genetic Services Laboratory, University of Chicago | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
Color Diagnostics, LLC DBA Color Health | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
CSER _CC_NCGL, University of Washington | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
Johns Hopkins Genomics, Johns Hopkins University | 0 | 2 | 0 | 0 | 0 | 0 | 1 | 1 |
Myriad Genetics, Inc. | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
Institute of Human Genetics, University Hospital Muenster | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
All of Us Research Program, National Institutes of Health | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
All variants with conflicting interpretations #
HGVS | dbSNP | gnomAD frequency |
---|---|---|
NM_000551. |
rs35460768 | 0.00261 |
NM_000551. |
rs61751580 | 0.00070 |
NM_000551. |
rs5030834 | 0.00051 |
NM_000551. |
rs104893829 | 0.00039 |
NM_016222. |
rs141601766 | 0.00012 |
NM_016222. |
rs762890562 | 0.00007 |
NM_000551. |
rs200019083 | 0.00004 |
NM_000551. |
rs193922608 | 0.00001 |
NM_000551. |
rs869025621 | |
NM_000551. |
rs5030805 | |
NM_000551. |
rs730882034 | |
NM_000551. |
rs864321643 | |
NM_000551. |
rs869025630 | |
NM_000551. |
rs869025667 | |
NM_016222. |
rs869312828 | |
NM_139276. |
rs2081548277 |