ClinVar Genomic variation as it relates to human health
NM_177965.4(CFAP418):c.149C>T (p.Thr50Met)
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 | |||
CFAP418 | - | - |
GRCh38 GRCh37 |
169 | 269 | |
CFAP418-AS1 | - | - | - | GRCh38 | - | 76 |
LOC130000784 | - | - | - | GRCh38 | - | 74 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 7, 2022 | RCV002921891.2 | |
Uncertain significance (1) |
|
Feb 29, 2024 | RCV003961206.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024