ClinVar Genomic variation as it relates to human health
NM_001424.6(EMP2):c.285T>C (p.Phe95=)
Germline
Classification
(2)
Likely benign
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 | |||
EMP2 | - | - |
GRCh38 GRCh37 |
91 | 126 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 23, 2023 | RCV002588416.2 | |
EMP2-related disorder
|
Likely benign (1) |
|
Aug 25, 2020 | RCV003898825.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024