ClinVar Genomic variation as it relates to human health
NM_001135649.3(FOXI3):c.1243C>T (p.Arg415Ter)
Germline
Classification
(2)
Uncertain significance
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 | |||
FOXI3 | - | - |
GRCh38 GRCh37 |
308 | 327 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 6, 2022 | RCV003140399.1 | |
Uncertain significance (1) |
|
Aug 22, 2023 | RCV003730400.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024