ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(?_24738645)_(25163738_?)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 | |||
CYCS | - | - |
GRCh38 GRCh37 |
53 | 84 | |
GSDME | - | - |
GRCh38 GRCh37 |
335 | 384 | |
OSBPL3 | - | - |
GRCh38 GRCh37 |
48 | 83 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 31, 2022 | RCV003113470.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023