ClinVar Genomic variation as it relates to human health
NM_032383.5(HPS3):c.0_217+692del
Germline
Classification
(2)
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 | |||
HPS3 | - | - |
GRCh38 GRCh37 |
897 | 1237 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (2) |
|
Oct 11, 2012 | RCV000004871.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022
A 3.9-kb deletion that removes all of exon 1 and 673 bp of intron 1 of HPS3.