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 |
|---|---|---|---|---|---|---|---|
| 204 | 108 | 0 | 26 | 42 | 1 | 5 | 70 |
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 | ||||||||
|---|---|---|---|---|---|---|---|---|
| Anophthalmia-microphthalmia syndrome | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | protective | other | |
| pathogenic | 0 | 1 | 1 | 0 | 0 | 0 | 0 | |
| likely pathogenic | 1 | 0 | 2 | 3 | 1 | 1 | 1 | |
| uncertain significance | 0 | 1 | 0 | 18 | 17 | 0 | 0 | |
| likely benign | 0 | 0 | 12 | 0 | 17 | 0 | 0 | |
| benign | 0 | 0 | 2 | 7 | 0 | 0 | 0 | |
Condition to condition summary #
Total conditions: 48
| 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 | 45 | 0 | 13 | 29 | 1 | 4 | 44 |
| carboxymethyl-dextran-A2-gadolinium-DOTA | 0 | 86 | 0 | 8 | 17 | 0 | 0 | 25 |
| not specified | 0 | 9 | 0 | 7 | 4 | 0 | 2 | 12 |
| 11p13 microduplication syndrome | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| 11p13p14 deletion | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| 16p12.3p13.12 deletion | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| 16p13.1 duplication | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| 16p13.2-p13.13 microduplication syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| 1q24q25 microdeletion syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| 22q13.3 interstitial deletion | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| 3p25.3p26.3 deletion | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| 6q14.1q15 deletion | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ATAD3 gene cluster related condition | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Abnormality of refraction | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Aminoaciduria | 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; Mild intellectual disability; 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 |
| Cardiovascular phenotype | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Cationic Amino Acid Transporter 2 Deficiency | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Encephalopathy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Epileptic encephalopathy | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| FRAS1-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Global developmental delay | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Global developmental delay; Expressive language delay; Secondary microcephaly | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Global developmental delay; Seizure; Hypotelorism; Short philtrum; Floppy infant | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Growth abnormality | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Hereditary cancer | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Hereditary nonpolyposis colorectal neoplasms | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Hirschsprung disease, susceptibility to, 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Immunodeficiency 47 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Internal malformations | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Interstitial 6q microdeletion syndrome | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MBD5 associated neurodevelopmental disorder | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Male infertility with azoospermia or oligozoospermia due to single gene mutation | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Mild intellectual disability | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| PTCH1-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| RHD DEL | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| SIX6-related disorder | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| See cases | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| Severe intellectual disability | 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 | 0 | 0 | 0 | 1 | 1 |
| Spinocerebellar ataxia, X-linked | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Splenomegaly; Decreased circulating immunoglobulin concentration | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| VSX2-related Microphthalmia | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| ZNF331 deletion | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
All variants with conflicting interpretations #
Total variants: 70