ClinVar Genomic variation as it relates to human health
NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter)
Germline
Classification
(3)
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 | |||
RAB3GAP1 | - | - |
GRCh38 GRCh37 |
487 | 508 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 17, 2023 | RCV003137195.3 | |
Pathogenic (2) |
|
Feb 29, 2024 | RCV003152814.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024