ClinVar Genomic variation as it relates to human health
NM_013351.2(TBX21):c.113C>A (p.Pro38Gln)
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 | |||
LOC109286563 | - | - | - | GRCh38 | - | 10 |
TBX21 | - | - |
GRCh38 GRCh37 |
29 | 57 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 5, 2022 | RCV003224744.1 | |
Uncertain significance (1) |
|
Jun 7, 2024 | RCV004673865.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 11, 2024