ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xp22.11-21.3(chrX:24731488-25198631)
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 | |||
ARX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
692 | 1021 | |
POLA1 | - | - |
GRCh38 GRCh37 |
638 | 812 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986257.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024