ClinVar Genomic variation as it relates to human health
NM_000631.5(NCF4):c.26C>G (p.Ala9Gly)
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 | |||
NCF4 | - | - |
GRCh38 GRCh38 GRCh37 |
207 | 389 | |
NCF4-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 167 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 19, 2022 | RCV003021710.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024