ClinVar Genomic variation as it relates to human health
NM_005560.6(LAMA5):c.10693C>T (p.Arg3565Trp)
Germline
Classification
(3)
Likely benign
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 |
1614 | 1688 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (2) |
|
Jan 11, 2024 | RCV002947890.12 | |
LAMA5-related disorder
|
Likely benign (1) |
|
Apr 18, 2022 | RCV003963458.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024