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 |
|---|---|---|---|---|---|---|---|
| 201 | 38 | 0 | 26 | 11 | 1 | 10 | 41 |
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 | ||||||||
|---|---|---|---|---|---|---|---|---|
| Global developmental delay | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | protective | other | |
| pathogenic | 0 | 15 | 4 | 1 | 1 | 1 | 1 | |
| likely pathogenic | 11 | 0 | 2 | 0 | 0 | 0 | 0 | |
| uncertain significance | 2 | 2 | 0 | 9 | 2 | 0 | 0 | |
| likely benign | 1 | 1 | 1 | 0 | 1 | 1 | 1 | |
| benign | 1 | 1 | 1 | 1 | 0 | 1 | 1 | |
Condition to condition summary #
Total conditions: 61
| 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 | 39 | 0 | 22 | 8 | 1 | 7 | 31 |
| POLG-related disorder | 0 | 0 | 0 | 2 | 1 | 0 | 0 | 3 |
| Marfanoid habitus and intellectual disability | 0 | 0 | 0 | 2 | 0 | 0 | 1 | 2 |
| Seizure; Focal-onset seizure; Irregular menstruation; Confusion; Palpitations; Periventricular heterotopia; Abnormal emotion | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| not specified | 0 | 4 | 0 | 1 | 2 | 0 | 1 | 2 |
| 16p13.11 recurrent microdeletion syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| 16p13.2-p13.13 microduplication syndrome | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| 1p13.3 deletion syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| 1q24q25 microdeletion syndrome | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| 22q13.3 interstitial deletion | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| ATAD3 gene cluster related condition | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Abnormal bleeding | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Aminoaciduria | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Arthrogryphosis | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Atypical behavior; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Secondary microcephaly | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Atypical behavior; Moderate global developmental delay | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Autistic behavior; Absent speech | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Autistic behavior; Moderate global developmental delay | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Autistic behavior; Severe global developmental delay | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| CTNNB1-related disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| DDC-related condition | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Deep venous thrombosis | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Delayed speech and language development | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Epileptic encephalopathy | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 1 |
| Focal-onset seizure | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 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 | 1 | 1 |
| Global developmental delay | 279 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Global developmental delay; Expressive language delay; Secondary microcephaly | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Global developmental delay; Seizure; Hypotelorism; Short philtrum; Infantile muscular hypotonia | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Growth abnormality | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Immunodeficiency 47 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Inherited Immunodeficiency Diseases | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Intellectual disability, mild | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Intellectual disability, severe | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Internal malformations | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Interstitial 6q microdeletion syndrome | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| KCNN2-related condition | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| LETM1-associated clinical spectrum with predominant nervous system involvement | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| LRP2-related condition | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| MBD5 associated neurodevelopmental disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| MKS1-related condition | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Muscle dystrophy | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Neurodevelopmental abnormality | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 |
| Neurodevelopmental delay | 0 | 4 | 0 | 1 | 0 | 0 | 0 | 1 |
| Pediatric metastatic thyroid tumour | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Primary amenorrhea | 0 | 0 | 0 | 1 | 1 | 0 | 1 | 1 |
| RAPSN-Related Disorders | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| RHD DEL | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Renal transitional cell carcinoma | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| SLC4A10-related neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| SUCLA2-related condition | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| See cases | 0 | 5 | 0 | 1 | 1 | 0 | 1 | 1 |
| Seizure | 0 | 0 | 0 | 1 | 1 | 0 | 1 | 1 |
| Seizure; Hypotonia; Neurodevelopmental Disability | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Silver Russell Syndrome-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Spastic paraplegia | 0 | 0 | 0 | 1 | 1 | 0 | 1 | 1 |
| Spinocerebellar ataxia, X-linked | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Splenomegaly; Decreased circulating antibody level | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| ZMYND11-related condition | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZNF331 deletion | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
All variants with conflicting interpretations #
Total variants: 41