ClinVar Genomic variation as it relates to human health
NM_004380.3(CREBBP):c.760G>T (p.Ala254Ser)
Germline
Classification
(2)
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 | |||
CREBBP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2413 | 2531 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 9, 2023 | RCV003761124.2 | |
CREBBP-related disorder
|
Uncertain significance (1) |
|
Jan 3, 2024 | RCV003909142.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024