ClinVar Genomic variation as it relates to human health
NM_002905.5(RDH5):c.771T>C (p.Cys257=)
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 | |||
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 |
---|---|---|---|---|
Likely benign (1) |
|
Nov 8, 2022 | RCV003834834.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 11, 2024