ClinVar Genomic variation as it relates to human health
NM_005121.3(MED13):c.5211C>G (p.Gly1737=)
Germline
Classification
(2)
Likely benign
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 | |||
MED13 | - | - |
GRCh38 GRCh37 |
399 | 432 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jul 1, 2022 | RCV003428361.9 | |
MED13-related disorder
|
Likely benign (1) |
|
Jul 23, 2019 | RCV003946559.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024