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 |
---|---|---|---|---|---|---|---|
182 | 96 | 0 | 24 | 42 | 1 | 6 | 68 |
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 | 2 | 0 | 0 | 0 | 0 | |
likely pathogenic | 1 | 0 | 1 | 3 | 1 | 1 | 1 | |
uncertain significance | 0 | 1 | 0 | 17 | 18 | 0 | 0 | |
likely benign | 0 | 0 | 12 | 0 | 16 | 0 | 0 | |
benign | 0 | 0 | 2 | 6 | 0 | 0 | 0 |
Condition to condition summary #
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 | 31 | 0 | 8 | 27 | 1 | 5 | 38 |
carboxymethyl-dextran-A2-gadolinium-DOTA | 0 | 86 | 0 | 8 | 18 | 0 | 0 | 26 |
not specified | 0 | 6 | 0 | 7 | 3 | 0 | 1 | 10 |
OTX2-Related Syndromic Microphthalmia | 0 | 2 | 0 | 2 | 2 | 0 | 0 | 4 |
Syndromic Microphthalmia, Dominant | 0 | 1 | 0 | 1 | 2 | 0 | 0 | 3 |
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 |
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; 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 |
Encephalopathy | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
Epileptic encephalopathy | 0 | 0 | 0 | 1 | 0 | 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; 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 |
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 |
Intellectual disability, mild | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
Intellectual disability, severe | 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 |
MKS1-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
Male infertility with azoospermia or oligozoospermia due to single gene mutation | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
PTCH1-related disorder | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
Primary amenorrhea | 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 |
Seizure | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 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 antibody level | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
VSX2-related Microphthalmia | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
ZNF331 deletion | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 |