ClinVar Genomic variation as it relates to human health
NC_000014.8:g.(?_97319190)_(97325994_?)del
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 | |||
VRK1 | - | - |
GRCh38 GRCh37 |
540 | 567 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Apr 14, 2022 | RCV004578099.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024