ClinVar Genomic variation as it relates to human health
NM_016145.4(WDR83OS):c.5C>G (p.Ser2Cys)
Germline
Classification
(2)
Uncertain significance
criteria provided, multiple submitters, no conflicts
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 | |||
WDR83 | - | - |
GRCh38 GRCh37 |
13 | 74 | |
WDR83OS | - | - |
GRCh38 GRCh37 |
- | 47 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 29, 2022 | RCV002993580.2 | |
Uncertain significance (1) |
|
Apr 8, 2024 | RCV004681587.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024