ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
SMARCB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1073 | 1212 | |
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
126 | 294 | |
TOP3B | No evidence available | No evidence available |
GRCh38 GRCh37 |
92 | 205 | |
ADORA2A | - | - |
GRCh38 GRCh37 |
- | 127 | |
C22orf15 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 115 |
CABIN1 | - | - |
GRCh38 GRCh38 GRCh37 |
242 | 352 | |
CCDC116 | - | - | - |
GRCh38 GRCh37 |
54 | 156 |
CHCHD10 | - | - |
GRCh38 GRCh38 GRCh37 |
240 | 352 | |
DDT | - | - |
GRCh38 GRCh38 GRCh37 |
- | 108 | |
DDTL | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 110 |
There are 39 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 27, 2018 | RCV000684520.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023