ClinVar Genomic variation as it relates to human health
NM_004928.3(CFAP410):c.648C>T (p.Val216=)
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 | |||
CFAP410 | - | - |
GRCh38 GRCh37 |
354 | 507 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 1, 2024 | RCV003870868.1 | |
CFAP410-related disorder
|
Likely benign (1) |
|
Jul 31, 2022 | RCV003966737.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024