ClinVar Genomic variation as it relates to human health
NM_017449.5(EPHB2):c.945C>G (p.Asp315Glu)
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 | |||
EPHB2 | - | - |
GRCh38 GRCh37 |
91 | 100 | |
MIR4253 | - | - | - | GRCh38 | - | 2 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 10, 2021 | RCV002732323.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 13, 2023