ClinVar Genomic variation as it relates to human health
NM_001206847.2(SMIM18):c.209T>C (p.Val70Ala)
Germline
Classification
(1)
Uncertain significance
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 | |||
GTF2E2 | - | - |
GRCh38 GRCh37 |
137 | 217 | |
SMIM18 | - | - | - |
GRCh38 GRCh37 |
- | 79 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 28, 2023 | RCV004350930.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 25, 2024