ClinVar Genomic variation as it relates to human health
NC_000022.10:g.(?_23915453)_(24237293_?)del
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 |
1070 | 1209 | |
C22orf15 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 115 |
CHCHD10 | - | - |
GRCh38 GRCh38 GRCh37 |
238 | 350 | |
DERL3 | - | - |
GRCh38 GRCh38 GRCh37 |
10 | 149 | |
DRICH1 | - | - | - |
GRCh38 GRCh37 |
17 | 131 |
IGLL1 | - | - |
GRCh38 GRCh37 |
232 | 346 | |
MIF | - | - |
GRCh38 GRCh38 GRCh37 |
- | 136 | |
MMP11 | - | - |
GRCh38 GRCh38 GRCh37 |
54 | 162 | |
RGL4 | - | - |
GRCh38 GRCh37 |
32 | 142 | |
SLC2A11 | - | - |
GRCh38 GRCh38 GRCh37 |
39 | 162 |
There are 2 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 20, 2021 | RCV001941512.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024