ClinVar Genomic variation as it relates to human health
NM_025215.6(PUS1):c.545-6C>G
Germline
Classification
(2)
Likely benign
criteria provided, single submitter
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 | |||
PUS1 | - | - |
GRCh38 GRCh37 |
474 | 617 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 4, 2024 | RCV002623224.3 | |
PUS1-related disorder
|
Likely benign (1) |
|
Jun 27, 2019 | RCV003936599.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024