ClinVar Genomic variation as it relates to human health
NM_001079872.2(CUL4B):c.920+9G>A
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(2)
Uncertain significance(1); Likely benign(2)
criteria provided, conflicting classifications
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 |
244 | 467 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
|
Mar 12, 2023 | RCV003145926.4 | |
CUL4B-related disorder
|
Likely benign (1) |
|
May 25, 2022 | RCV003936711.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024