ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
DICER1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6366 | 6404 | |
ASB2 | - | - |
GRCh38 GRCh38 GRCh37 |
51 | 78 | |
BTBD7 | - | - |
GRCh38 GRCh38 GRCh37 |
59 | 85 | |
CLMN | - | - |
GRCh38 GRCh37 |
100 | 127 | |
COX8C | - | - |
GRCh38 GRCh38 GRCh37 |
- | 31 | |
DDX24 | - | - |
GRCh38 GRCh38 GRCh37 |
43 | 83 | |
FAM181A | - | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 49 |
GLRX5 | - | - |
GRCh38 GRCh37 |
97 | 123 | |
GON7 | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 32 | |
GSC | - | - |
GRCh38 GRCh37 |
82 | 108 |
There are 23 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) |
|
Aug 1, 2014 | RCV000511246.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024