ClinVar Genomic variation as it relates to human health
NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly)
Germline
Classification
(6)
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 | |||
CFH | - | - |
GRCh38 GRCh38 GRCh37 |
830 | 859 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 10, 2023 | RCV002614107.2 | |
Uncertain significance (1) |
|
Apr 12, 2022 | RCV002614108.2 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003456295.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003455548.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003455547.1 | |
Uncertain significance (1) |
|
Apr 11, 2023 | RCV003455549.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024