ClinVar Genomic variation as it relates to human health
NM_015267.4(CUX2):c.2500C>G (p.Pro834Ala)
Germline
Classification
(2)
Benign
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 | |||
CUX2 | - | - |
GRCh38 GRCh37 |
286 | 294 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jul 1, 2024 | RCV003312248.12 | |
CUX2-related disorder
|
Likely benign (1) |
|
Aug 26, 2019 | RCV003966308.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024