ClinVar Genomic variation as it relates to human health
NM_000398.7(CYB5R3):c.367G>A (p.Ala123Thr)
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 | |||
CYB5R3 | - | - |
GRCh38 GRCh37 |
194 | 249 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 6, 2022 | RCV002904553.2 | |
Uncertain significance (1) |
|
Jul 13, 2023 | RCV003146673.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024