ClinVar Genomic variation as it relates to human health
NM_006873.4(STON1):c.2072G>T (p.Gly691Val)
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 | |||
STON1 | - | - |
GRCh38 GRCh37 |
- | 26 | |
STON1-GTF2A1L | - | - | - |
GRCh38 GRCh37 |
- | 302 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 1, 2022 | RCV002463969.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024