ClinVar Genomic variation as it relates to human health
NM_005560.6(LAMA5):c.9157C>G (p.Gln3053Glu)
Germline
Classification
(3)
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 | |||
LAMA5 | - | - |
GRCh38 GRCh37 |
1544 | 1614 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 10, 2023 | RCV002927116.2 | |
Uncertain significance (1) |
|
Aug 16, 2021 | RCV002927115.2 | |
LAMA5-related disorder
|
Uncertain significance (1) |
|
Feb 7, 2024 | RCV003936382.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024