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 |
|---|---|---|---|---|---|---|---|
| 411 | 40 | 0 | 8 | 1 | 0 | 2 | 11 |
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 conditions | |||||
|---|---|---|---|---|---|
| Aplastic anemia | pathogenic | likely pathogenic | uncertain significance | benign | |
| pathogenic | 0 | 6 | 0 | 0 | |
| likely pathogenic | 2 | 0 | 2 | 0 | |
| likely benign | 0 | 0 | 1 | 1 | |
Condition to condition summary #
Total conditions: 6
| Condition | 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 |
|---|---|---|---|---|---|---|---|---|
| Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia | 0 | 22 | 0 | 5 | 0 | 0 | 1 | 6 |
| Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Aplastic anemia | 455 | 6 | 0 | 1 | 0 | 0 | 0 | 1 |
| Aplastic anemia; Familial hemophagocytic lymphohistiocytosis 2; Lymphoma, non-Hodgkin, familial | 0 | 3 | 0 | 1 | 0 | 0 | 0 | 1 |
| Interstitial lung disease 2; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 | 0 | 5 | 0 | 1 | 0 | 0 | 0 | 1 |
| Shwachman-Diamond syndrome 1; Aplastic anemia | 0 | 5 | 0 | 0 | 0 | 0 | 1 | 1 |
All variants with conflicting interpretations #
Total variants: 11
| HGVS | dbSNP | gnomAD frequency |
|---|---|---|
|
NM_198253. |
rs574645600 | 0.00013 |
|
NM_001083116. |
rs751247865 | 0.00006 |
|
NM_002485. |
rs1057516320 | 0.00001 |
|
NM_016038. |
rs774976459 | 0.00001 |
|
NM_016038. |
rs113993998 | 0.00001 |
|
NM_002485. |
rs764884516 | |
|
NM_002485. |
rs766044684 | |
|
NM_002485. |
rs864622143 | |
|
NM_002485. |
rs762664474 | |
|
NM_002485. |
rs771034958 | |
|
NM_198253. |
rs377639087 |