ClinVar Genomic variation as it relates to human health
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
Germline
Classification
(5)
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 | |||
SOS2 | - | - |
GRCh38 GRCh37 |
1486 | 1535 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (3) |
|
Jan 11, 2024 | RCV001066044.8 | |
Uncertain significance (1) |
|
Jul 19, 2021 | RCV001193656.3 | |
Uncertain significance (1) |
|
- | RCV001261128.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2024