ClinVar Genomic variation as it relates to human health
NM_014671.3(UBE3C):c.1999del (p.Asp667fs)
Germline
Classification
(3)
Pathogenic/Likely pathogenic
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 | |||
UBE3C | - | - |
GRCh38 GRCh37 |
51 | 141 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
- | RCV002512428.1 |
Pathogenic (2) |
|
Mar 29, 2024 | RCV003154257.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024