ClinVar Genomic variation as it relates to human health
NM_005029.4(PITX3):c.483T>G (p.Leu161=)
Germline
Classification
(1)
Likely benign
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 | |||
PITX3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 65 | |
GBF1 | - | - |
GRCh38 GRCh37 |
94 | 162 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
PITX3-related disorder
|
Likely benign (1) |
|
Jan 4, 2021 | RCV003901416.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024