ClinVar Genomic variation as it relates to human health
NM_000202.8(IDS):c.1333C>T (p.Arg445Cys)
Germline
Classification
(2)
Likely benign
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 | |||
IDS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
661 | 1576 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 27, 2023 | RCV003090151.3 | |
Uncertain significance (1) |
|
Aug 10, 2021 | RCV004572778.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024