ClinVar Genomic variation as it relates to human health
NM_001981.3(EPS15):c.10G>A (p.Ala4Thr)
Germline
Classification
(1)
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 | |||
EPS15 | - | - |
GRCh38 GRCh37 |
48 | 63 | |
EPS15-AS1 | - | - | - | GRCh38 | - | 3 |
OSBPL9 | - | - |
GRCh38 GRCh37 |
31 | 46 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 10, 2023 | RCV004378237.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 18, 2024