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 |
|---|---|---|---|---|---|---|---|
| 185 | 123 | 2 | 34 | 38 | 10 | 7 | 79 |
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 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Hirschsprung disease, susceptibility to, 1 | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | drug response | protective | risk factor | |
| pathogenic | 0 | 8 | 1 | 0 | 0 | 0 | 0 | 0 | |
| likely pathogenic | 5 | 0 | 1 | 3 | 1 | 0 | 0 | 0 | |
| uncertain significance | 1 | 1 | 2 | 28 | 10 | 1 | 0 | 1 | |
| likely benign | 1 | 1 | 9 | 0 | 16 | 0 | 1 | 1 | |
| benign | 0 | 0 | 2 | 10 | 0 | 0 | 0 | 0 | |
| risk factor | 1 | 1 | 4 | 2 | 3 | 0 | 0 | 0 | |
Condition to condition summary #
Total conditions: 24
| 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 |
|---|---|---|---|---|---|---|---|---|
| not provided | 0 | 93 | 2 | 23 | 23 | 4 | 5 | 51 |
| not specified | 0 | 42 | 0 | 19 | 18 | 4 | 2 | 40 |
| RET-related disorder | 0 | 17 | 0 | 6 | 5 | 1 | 0 | 12 |
| Hirschsprung disease, susceptibility to, 1 | 365 | 14 | 0 | 5 | 1 | 2 | 0 | 8 |
| Aganglionic megacolon | 0 | 7 | 0 | 1 | 1 | 3 | 1 | 5 |
| Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A | 0 | 53 | 0 | 3 | 0 | 2 | 0 | 5 |
| Hereditary cancer | 0 | 1 | 0 | 0 | 3 | 0 | 0 | 3 |
| Anophthalmia-microphthalmia syndrome | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| DYNC2H1-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Ewing sarcoma of soft tissue | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Fluorouracil response | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Hirschsprung disease, protection against | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| LRBA-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| NOTCH2-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| NRP2-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| SOX10-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| See cases | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| TSC2-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Thyroid carcinoma, sporadic medullary | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| capecitabine response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| fluorouracil response - Other | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| fluorouracil response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| tegafur response - Toxicity | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
All variants with conflicting interpretations #
Total variants: 79