ClinVar Genomic variation as it relates to human health
NC_000011.10:g.32963226_33107103dup
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 | |||
CSTF3 | - | - |
GRCh38 GRCh37 |
15 | 44 | |
DEPDC7 | - | - |
GRCh38 GRCh37 |
14 | 43 | |
LINC00294 | - | - |
GRCh38 GRCh37 |
- | 28 | |
LOC126861177 | - | - | - | GRCh38 | - | 7 |
LOC130005490 | - | - | - | GRCh38 | - | 5 |
LOC130005491 | - | - | - | GRCh38 | - | 5 |
LOC130005492 | - | - | - | GRCh38 | - | 5 |
LOC130005493 | - | - | - | GRCh38 | - | 5 |
LOC130005494 | - | - | - | GRCh38 | - | 6 |
LOC130005495 | - | - | - | GRCh38 | - | 6 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 10, 2020 | RCV001542310.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023