ClinVar Genomic variation as it relates to human health
NM_000203.5(IDUA):c.894C>A (p.Asp298Glu)
Germline
Classification
(2)
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 | |||
IDUA | - | - |
GRCh38 GRCh37 |
1392 | 2157 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 13, 2023 | RCV003487915.2 | |
Uncertain significance (1) |
|
Nov 1, 2023 | RCV003779247.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024