ClinVar Genomic variation as it relates to human health
NM_005120.3(MED12):c.692G>A (p.Arg231Gln)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(2); Likely benign(1)
Uncertain significance(2); Likely benign(1)
criteria provided, conflicting classifications
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 |
1650 | 1884 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 27, 2022 | RCV003134489.3 | |
Likely benign (1) |
|
Dec 26, 2023 | RCV003776902.1 | |
Uncertain significance (1) |
|
Aug 1, 2022 | RCV004067904.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024