ClinVar Genomic variation as it relates to human health
NM_025000.4(DCAF17):c.51G>T (p.Ala17=)
Germline
Classification
(2)
Likely 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 | |||
DCAF17 | - | - |
GRCh38 GRCh37 |
466 | 551 | |
METTL8 | - | - |
GRCh38 GRCh37 |
21 | 109 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 28, 2024 | RCV003497062.2 | |
DCAF17-related disorder
|
Likely benign (1) |
|
Aug 24, 2024 | RCV004757597.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 03, 2024