ClinVar Genomic variation as it relates to human health
NM_000202.8(IDS):c.671G>C (p.Gly224Ala)
Germline
Classification
(2)
Pathogenic/Likely pathogenic
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 | |||
IDS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
660 | 1572 | |
LOC106050102 | - | - | - | GRCh38 | - | 745 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic/Likely pathogenic (2) |
|
Jun 7, 2024 | RCV003509088.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024