ClinVar Genomic variation as it relates to human health
NM_032383.5(HPS3):c.248dup (p.Asn83fs)
Germline
Classification
(2)
Pathogenic
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 | |||
HPS3 | - | - |
GRCh38 GRCh37 |
897 | 1237 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 7, 2024 | RCV002639989.2 | |
Pathogenic (1) |
|
Apr 18, 2023 | RCV003465809.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2024