ClinVar Genomic variation as it relates to human health
NM_004431.5(EPHA2):c.921C>T (p.Cys307=)
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
EPHA2 | - | - |
GRCh38 GRCh37 |
313 | 347 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
EPHA2-related disorder
|
Uncertain significance (1) |
|
Nov 22, 2023 | RCV003410489.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024