ClinVar Genomic variation as it relates to human health
NM_000014.6(A2M):c.1402C>A (p.Leu468Ile)
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 | |||
A2M | - | - |
GRCh38 GRCh37 |
- | 145 | |
KLRG1 | - | - |
GRCh38 GRCh37 |
9 | 241 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 17, 2024 | RCV004433228.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024