ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3
Germline
Classification
(1)
Likely 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 |
1028 | 1165 | |
BCR | No evidence available | No evidence available |
GRCh38 GRCh37 |
118 | 285 | |
ADORA2A | - | - |
GRCh38 GRCh37 |
- | 124 | |
C22orf15 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 115 |
CABIN1 | - | - |
GRCh38 GRCh38 GRCh37 |
222 | 332 | |
CHCHD10 | - | - |
GRCh38 GRCh38 GRCh37 |
233 | 345 | |
DDT | - | - |
GRCh38 GRCh38 GRCh37 |
- | 108 | |
DDTL | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 110 |
DERL3 | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 144 | |
DRICH1 | - | - | - |
GRCh38 GRCh37 |
16 | 130 |
There are 25 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Apr 4, 2019 | RCV000787284.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023