ClinVar Genomic variation as it relates to human health
NM_012448.4(STAT5B):c.2171C>T (p.Thr724Met)
Germline
Classification
(2)
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 | |||
STAT5B | - | - |
GRCh38 GRCh37 |
452 | 459 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 3, 2023 | RCV003320425.2 | |
Uncertain significance (1) |
|
Feb 18, 2023 | RCV003505333.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024