ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_30253450)_(32460464_?)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 | |||
PAX6 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
685 | 889 | |
WT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
910 | 1665 | |
ARL14EP | - | - |
GRCh38 GRCh37 |
13 | 33 | |
DCDC1 | - | - |
GRCh38 GRCh37 |
61 | 128 | |
DNAJC24 | - | - |
GRCh38 GRCh37 |
5 | 63 | |
ELP4 | - | - |
GRCh38 GRCh37 |
60 | 286 | |
FSHB | - | - |
GRCh38 GRCh37 |
3 | 70 | |
IMMP1L | - | - |
GRCh38 GRCh37 |
11 | 73 | |
MPPED2 | - | - |
GRCh38 GRCh37 |
6 | 27 | |
RCN1 | - | - |
GRCh38 GRCh37 |
17 | 51 |
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) |
|
Feb 20, 2022 | RCV003113910.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023