ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_136957787)_(138861289_?)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 | |||
CTNNA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2824 | 2880 | |
BRD8 | - | - |
GRCh38 GRCh37 |
43 | 63 | |
CDC23 | - | - |
GRCh38 GRCh37 |
14 | 34 | |
CDC25C | - | - |
GRCh38 GRCh37 |
30 | 49 | |
DNAJC18 | - | - | - |
GRCh38 GRCh38 GRCh37 |
17 | 45 |
ECSCR | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 29 | |
EGR1 | - | - |
GRCh38 GRCh37 |
11 | 32 | |
ETF1 | - | - |
GRCh38 GRCh37 |
1 | 19 | |
FAM13B | - | - |
GRCh38 GRCh37 |
35 | 63 | |
FAM53C | - | - |
GRCh38 GRCh37 |
22 | 40 |
There are 21 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) |
|
Dec 3, 2021 | RCV003113978.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023