ClinVar Genomic variation as it relates to human health
NM_005120.3(MED12):c.1702G>T (p.Asp568Tyr)
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 |
1686 | 1927 | |
LOC126863275 | - | - | - | GRCh38 | - | 175 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
MED12-related disorder
|
Uncertain significance (1) |
|
Nov 2, 2023 | RCV003985648.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024