ClinVar Genomic variation as it relates to human health
NM_005670.4(EPM2A):c.120G>C (p.Leu40=)
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 | |||
EPM2A | - | - |
GRCh38 GRCh37 |
237 | 442 | |
EPM2A-DT | - | - | - | GRCh38 | - | 217 |
LOC129997381 | - | - | - | GRCh38 | - | 191 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Oct 2, 2019 | RCV002353273.2 | |
Likely benign (1) |
|
Aug 24, 2023 | RCV003916455.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024