ClinVar Genomic variation as it relates to human health
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
Germline
Classification
(4)
Uncertain significance
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 | |||
MED12 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1609 | 1840 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 26, 2022 | RCV002640586.1 | |
Uncertain significance (1) |
|
Apr 10, 2023 | RCV003443134.1 | |
Uncertain significance (1) |
|
Aug 23, 2023 | RCV003596217.1 | |
Uncertain significance (1) |
|
- | RCV003883207.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 20, 2024