ClinVar Genomic variation as it relates to human health
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
Germline
Classification
(3)
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 | |||
CREBBP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2156 | 2270 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 3, 2024 | RCV002933950.2 | |
Likely benign (1) |
|
Nov 1, 2022 | RCV003434536.3 | |
Likely benign (1) |
|
Jul 16, 2021 | RCV003963484.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024