ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.21(chr22:18929329-19017259)x0
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
DGCR5 | - | - | GRCh38 | - | 188 | |
HSERVPRODH | - | - | - | GRCh38 | - | 191 |
LOC122455341 | - | - | - | GRCh38 | - | 181 |
PRODH | - | - |
GRCh38 GRCh37 |
377 | 785 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 27, 2013 | RCV000140456.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022