ClinVar Genomic variation as it relates to human health
NM_016492.5(RANGRF):c.134A>G (p.Gln45Arg)
Germline
Classification
(2)
Uncertain significance
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 | |||
LOC130060241 | - | - | - | GRCh38 | - | 33 |
RANGRF | - | - |
GRCh38 GRCh37 |
- | 183 | |
SLC25A35 | - | - |
GRCh38 GRCh37 |
19 | 202 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 3, 2023 | RCV003755000.1 | |
Uncertain significance (1) |
|
Feb 3, 2022 | RCV004130548.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024