ClinVar Genomic variation as it relates to human health
NM_022081.6(HPS4):c.1221C>T (p.Ser407=)
Germline
Classification
(2)
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 | |||
HPS4 | - | - |
GRCh38 GRCh37 |
824 | 855 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 9, 2023 | RCV003724069.1 | |
HPS4-related disorder
|
Likely benign (1) |
|
Jan 9, 2020 | RCV003939158.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024