ClinVar Genomic variation as it relates to human health
NC_000014.8:g.(?_90429459)_(97347545_?)dup
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 | |||
DICER1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6213 | 6251 | |
AK7 | - | - |
GRCh38 GRCh37 |
323 | 354 | |
ASB2 | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 62 | |
ATG2B | - | - |
GRCh38 GRCh37 |
198 | 228 | |
ATXN3 | - | - |
GRCh38 GRCh37 |
26 | 70 | |
BDKRB1 | - | - |
GRCh38 GRCh37 |
23 | 49 | |
BDKRB2 | - | - |
GRCh38 GRCh37 |
19 | 45 | |
BTBD7 | - | - |
GRCh38 GRCh38 GRCh37 |
45 | 71 | |
C14orf132 | - | - | - |
GRCh38 GRCh37 |
3 | 28 |
CALM1 | - | - |
GRCh38 GRCh37 |
96 | 161 |
There are 58 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) |
|
Jun 22, 2022 | RCV003109490.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023