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 |
|---|---|---|---|---|---|---|---|
| 3569 | 575 | 0 | 91 | 73 | 1 | 8 | 168 |
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 | ||||||||
|---|---|---|---|---|---|---|---|---|
| Epileptic encephalopathy | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | protective | other | |
| pathogenic | 0 | 6 | 3 | 1 | 1 | 1 | 1 | |
| likely pathogenic | 12 | 0 | 5 | 0 | 0 | 0 | 0 | |
| uncertain significance | 1 | 0 | 0 | 21 | 1 | 0 | 0 | |
| likely benign | 0 | 0 | 43 | 0 | 9 | 0 | 0 | |
| benign | 0 | 0 | 9 | 66 | 0 | 0 | 0 | |
Condition to condition summary #
Total conditions: 51
| 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 | 309 | 0 | 69 | 25 | 1 | 7 | 97 |
| not specified | 0 | 210 | 0 | 4 | 43 | 0 | 2 | 48 |
| FASN-related disorder | 0 | 48 | 0 | 16 | 3 | 0 | 0 | 19 |
| RYR3-related disorder | 0 | 39 | 0 | 14 | 1 | 0 | 0 | 15 |
| GABBR2-related disorder | 0 | 14 | 0 | 3 | 1 | 0 | 0 | 4 |
| Epileptic encephalopathy | 4302 | 7 | 0 | 2 | 1 | 0 | 0 | 3 |
| Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| See cases | 0 | 4 | 0 | 2 | 0 | 0 | 1 | 2 |
| Seizure | 0 | 2 | 0 | 2 | 0 | 0 | 1 | 2 |
| 11p13 microduplication syndrome | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| 16p13.11 recurrent microdeletion syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| 1p13.3 deletion syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ATAD3 gene cluster related condition | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Abnormal bleeding | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Anophthalmia-microphthalmia syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Arthrogryphosis | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Atypical behavior; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Secondary microcephaly | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Atypical behavior; Moderate global developmental delay | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autistic behavior; Absent speech | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Autistic behavior; Moderate global developmental delay | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Autistic behavior; Severe global developmental delay | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Cardiovascular phenotype | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Deep venous thrombosis | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Delayed speech and language development | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Encephalopathy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Flexion contracture | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| Focal-onset seizure | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Global developmental delay | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Global developmental delay; Seizure; Hypotelorism; Short philtrum; Infantile muscular hypotonia | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Growth abnormality | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Hereditary nonpolyposis colorectal neoplasms | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Inherited Immunodeficiency Diseases | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Intellectual disability, mild | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Internal malformations | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| KCNQ2-related disorder | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| Marfanoid habitus and intellectual disability | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Muscle dystrophy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Myoclonic absence seizure | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Neurodevelopmental delay | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| PPFIA3-related disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Pediatric metastatic thyroid tumour | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Primary amenorrhea | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Renal transitional cell carcinoma | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SLC4A10-related neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Silver Russell Syndrome-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Spastic paraplegia | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Spinocerebellar ataxia, X-linked | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Tobacco addiction, susceptibility to; Neurodevelopmental disorder with poor language and loss of hand skills; Developmental and epileptic encephalopathy, 59 | 0 | 2 | 0 | 0 | 1 | 0 | 0 | 1 |
| ZNF331 deletion | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
All variants with conflicting interpretations #
Total variants: 168