ClinVar Genomic variation as it relates to human health
NM_006005.3(WFS1):c.1024_1032dup (p.Phe344_Ile345insAlaPhePhe)
Germline
Classification
(2)
Likely pathogenic
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 | |||
WFS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1742 | 1843 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (2) |
|
Aug 15, 2023 | RCV002289299.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024