ClinVar Genomic variation as it relates to human health
NM_020919.4(ALS2):c.1254G>A (p.Leu418=)
Germline
Classification
(2)
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 | |||
ALS2 | - | - |
GRCh38 GRCh37 |
1006 | 1050 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 22, 2023 | RCV003612456.1 | |
Likely benign (1) |
|
Jul 1, 2024 | RCV004598275.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 11, 2024