ClinVar Genomic variation as it relates to human health
NM_080476.5(PIGU):c.927-8_927-4del
Germline
Classification
(3)
Benign/Likely benign
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 | |||
PIGU | - | - |
GRCh38 GRCh37 |
105 | 121 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign/Likely benign (2) |
|
Jan 15, 2024 | RCV002923892.7 | |
PIGU-related disorder
|
Benign (1) |
|
Dec 11, 2019 | RCV003936442.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024