ClinVar Genomic variation as it relates to human health
NM_019109.5(ALG1):c.1393dup (p.Ter465LeuextTer?)
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 | |||
ALG1 | - | - |
GRCh38 GRCh37 |
696 | 906 | |
EEF2KMT | - | - |
GRCh38 GRCh37 |
39 | 158 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 4, 2023 | RCV003123513.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024