ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q11.23(chr22:23950632-24276233)x4
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |
C22orf15 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 115 |
CHCHD10 | - | - |
GRCh38 GRCh38 GRCh37 |
233 | 345 | |
DERL3 | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 144 | |
DRICH1 | - | - | - |
GRCh38 GRCh37 |
16 | 130 |
MIF | - | - |
GRCh38 GRCh38 GRCh37 |
- | 136 | |
MMP11 | - | - |
GRCh38 GRCh38 GRCh37 |
43 | 151 | |
RGL4 | - | - |
GRCh38 GRCh37 |
30 | 140 | |
SLC2A11 | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 158 | |
VPREB3 | - | - |
GRCh38 GRCh37 |
15 | 122 |
There is 1 more gene 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240514.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022