ClinVar Genomic variation as it relates to human health
NM_001378189.1(CFAP57):c.1750T>G (p.Ser584Ala)
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 | |||
CFAP57 | - | - |
GRCh38 GRCh37 |
75 | 99 | |
LOC126805719 | - | - | - | GRCh38 | - | 12 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CFAP57-related disorder
|
Uncertain significance (1) |
|
Apr 20, 2023 | RCV003408807.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024