ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xp22.11(chrX:22939885-23001905)x1
Germline
Classification
(1)
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 | |||
DDX53 | - | - |
GRCh38 GRCh37 |
13 | 217 | |
LOC126863227 | - | - | - | GRCh38 | - | 81 |
PTCHD1-AS | - | - | - | GRCh38 | 2 | 593 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 7, 2015 | RCV000225165.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023