ClinVar Genomic variation as it relates to human health
NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)
Germline
Classification
(4)
Pathogenic/Likely 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 | |||
ARF3 | - | - |
GRCh38 GRCh37 |
18 | 32 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV002280595.2 | |
Likely pathogenic (1) |
|
Mar 21, 2023 | RCV003224894.2 | |
See cases
|
Pathogenic (1) |
|
Sep 4, 2023 | RCV003985555.1 |
Pathogenic (1) |
|
Mar 27, 2024 | RCV004729127.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024