ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3
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 |
1068 | 1206 | |
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
126 | 294 | |
ADORA2A | - | - |
GRCh38 GRCh37 |
- | 127 | |
C22orf15 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 115 |
CABIN1 | - | - |
GRCh38 GRCh38 GRCh37 |
240 | 350 | |
CHCHD10 | - | - |
GRCh38 GRCh38 GRCh37 |
235 | 347 | |
DDT | - | - |
GRCh38 GRCh38 GRCh37 |
- | 108 | |
DDTL | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 110 |
DERL3 | - | - |
GRCh38 GRCh38 GRCh37 |
10 | 148 | |
DRICH1 | - | - | - |
GRCh38 GRCh37 |
17 | 131 |
There are 18 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) |
|
Aug 29, 2017 | RCV000849234.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022