ClinVar Genomic variation as it relates to human health
NM_152443.3(RDH12):c.714C>G (p.Val238=)
Germline
Classification
(1)
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 | |||
GPHN | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
742 | 1859 | |
RDH12 | - | - |
GRCh38 GRCh37 |
3 | 611 | |
ZFYVE26 | - | - |
GRCh38 GRCh37 |
2730 | 2952 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 1, 2023 | RCV002828707.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024