ClinVar Genomic variation as it relates to human health
NM_001079872.2(CUL4B):c.366C>T (p.Ser122=)
Germline
Classification
(2)
Benign/Likely benign
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 | |||
CUL4B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
246 | 469 | |
LOC113845788 | - | - | - | GRCh38 | - | 136 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Mar 4, 2022 | RCV002664081.3 | |
CUL4B-related disorder
|
Likely benign (1) |
|
Jun 16, 2022 | RCV003900874.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024