ClinVar Genomic variation as it relates to human health
NM_000383.4(AIRE):c.1001C>A (p.Thr334Asn)
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 | |||
AIRE | - | - |
GRCh38 GRCh37 |
1129 | 1266 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 18, 2023 | RCV003635408.1 | |
Uncertain significance (1) |
|
Jan 9, 2024 | RCV004371858.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024