ClinVar Genomic variation as it relates to human health
NM_000202.8(IDS):c.419-3A>G
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 | |||
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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 24, 2023 | RCV003621995.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024