ClinVar Genomic variation as it relates to human health
NM_022834.5(VWA1):c.52_71dup (p.Gly25fs)
Germline
Classification
(1)
Likely pathogenic
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 | |||
VWA1 | - | - |
GRCh38 GRCh37 |
88 | 243 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
VWA1-related disorder
|
Likely pathogenic (1) |
|
Feb 8, 2024 | RCV003897015.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024