ClinVar Genomic variation as it relates to human health
NM_001079872.2(CUL4B):c.2576_2588del (p.Gln858_Leu859insTer)
Germline
Classification
(1)
Likely pathogenic
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 | |||
CUL4B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
243 | 464 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 20, 2022 | RCV003236630.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 21, 2023