ClinVar Genomic variation as it relates to human health
NM_022039.4(FBXW4):c.609C>T (p.Leu203=)
Germline
Classification
(2)
Likely benign
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 | |||
FBXW4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
67 | 138 | |
LOC130004563 | - | - | - | GRCh38 | - | 32 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 24, 2022 | RCV002994792.2 | |
FBXW4-related disorder
|
Likely benign (1) |
|
Mar 6, 2020 | RCV003973616.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024