ClinVar Genomic variation as it relates to human health
NM_005121.3(MED13):c.2503C>T (p.Pro835Ser)
Germline
Classification
(2)
Pathogenic/Likely pathogenic
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 | |||
MED13 | - | - |
GRCh38 GRCh37 |
358 | 390 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 2, 2022 | RCV002467173.1 | |
Likely pathogenic (1) |
|
- | RCV003985872.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024