ClinVar Genomic variation as it relates to human health
NM_002918.5(RFX1):c.839A>G (p.Gln280Arg)
Germline
Classification
(1)
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 | |||
RFX1 | - | - |
GRCh38 GRCh38 GRCh37 |
82 | 98 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Dec 12, 2023 | RCV003457226.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024