ClinVar Genomic variation as it relates to human health
NM_006014.5(LAGE3):c.95C>T (p.Ala32Val)
Germline
Classification
(1)
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 | |||
LAGE3 | - | - |
GRCh38 GRCh37 |
31 | 289 | |
LOC130068876 | - | - | - | GRCh38 | - | 142 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
LAGE3-related disorder
|
Uncertain significance (1) |
|
Dec 7, 2022 | RCV003394471.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024