ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_47894522)_(49060605_?)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 | |||
ARIH2 | - | - |
GRCh38 GRCh37 |
14 | 28 | |
ARIH2OS | - | - | - |
GRCh38 GRCh37 |
- | 13 |
ATRIP | - | - |
GRCh38 GRCh37 |
1 | 784 | |
CAMP | - | - |
GRCh38 GRCh37 |
4 | 16 | |
CCDC51 | - | - |
GRCh38 GRCh37 |
13 | 43 | |
CDC25A | - | - |
GRCh38 GRCh37 |
35 | 50 | |
CELSR3 | - | - |
GRCh38 GRCh37 |
279 | 291 | |
COL7A1 | - | - |
GRCh38 GRCh37 |
5193 | 5225 | |
DALRD3 | - | - |
GRCh38 GRCh37 |
39 | 62 | |
FBXW12 | - | - |
GRCh38 GRCh37 |
35 | 45 |
There are 21 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 31, 2022 | RCV004582341.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024