ClinVar Genomic variation as it relates to human health
NM_002905.5(RDH5):c.907G>T (p.Asp303Tyr)
Germline
Classification
(1)
Uncertain significance
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 | |||
BLOC1S1-RDH5 | - | - | - | GRCh38 | - | 287 |
CD63 | - | - |
GRCh38 GRCh37 |
10 | 136 | |
RDH5 | - | - |
GRCh38 GRCh37 |
- | 280 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 19, 2023 | RCV003107232.11 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 11, 2024