ClinVar Genomic variation as it relates to human health
NM_005996.4(TBX3):c.96G>C (p.Ala32=)
Germline
Classification
(2)
Likely benign
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 | |||
TBX3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
384 | 483 | |
TBX3-AS1 | - | - | - | GRCh38 | - | 95 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Aug 3, 2021 | RCV003919644.1 | |
Likely benign (1) |
|
Apr 1, 2024 | RCV004546824.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024