ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.22-11.23(chr22:22997928-23654007)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
118 | 285 | |
GNAZ | - | - |
GRCh38 GRCh37 |
- | 135 | |
IGLC1 | - | - |
GRCh38 GRCh37 |
- | 135 | |
IGLL5 | - | - | - |
GRCh38 GRCh37 |
- | 143 |
RAB36 | - | - |
GRCh38 GRCh37 |
- | 144 | |
RSPH14 | - | - |
GRCh38 GRCh37 |
20 | 177 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
22q11.2 distal duplication syndrome
|
Uncertain significance (1) |
|
Mar 2, 2019 | RCV000788072.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 30, 2022