ClinVar Genomic variation as it relates to human health
NM_001079668.3(NKX2-1):c.348C>A (p.Tyr116Ter)
Germline
Classification
(1)
Likely pathogenic
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 | |||
NKX2-1 | - | - |
GRCh38 GRCh37 |
2 | 359 | |
SFTA3 | - | - |
GRCh38 GRCh37 |
- | 326 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 9, 2020 | RCV003237253.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 08, 2023