ClinVar Genomic variation as it relates to human health
NM_152443.3(RDH12):c.867G>A (p.Trp289Ter)
Germline
Classification
(1)
Likely pathogenic
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 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
754 | 1874 | |
RDH12 | - | - |
GRCh38 GRCh37 |
5 | 618 | |
ZFYVE26 | - | - |
GRCh38 GRCh37 |
2737 | 2962 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Feb 25, 2024 | RCV004574718.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024