ClinVar Genomic variation as it relates to human health
NC_000014.8:g.(?_93687728)_(95560403_?)del
Germline
Classification
(1)
Likely pathogenic
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 | |||
DICER1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6471 | 6509 | |
ASB2 | - | - |
GRCh38 GRCh38 GRCh37 |
61 | 88 | |
BTBD7 | - | - |
GRCh38 GRCh38 GRCh37 |
67 | 93 | |
COX8C | - | - |
GRCh38 GRCh38 GRCh37 |
- | 33 | |
DDX24 | - | - |
GRCh38 GRCh38 GRCh37 |
48 | 89 | |
FAM181A | - | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 50 |
GSC | - | - |
GRCh38 GRCh37 |
84 | 110 | |
IFI27 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 36 | |
IFI27L1 | - | - |
GRCh38 GRCh38 GRCh37 |
13 | 40 | |
IFI27L2 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 35 |
There are 15 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 18, 2020 | RCV002044285.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024