ClinVar Genomic variation as it relates to human health
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Likely benign
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 | |||
ITGA2B | - | - |
GRCh38 GRCh37 |
714 | 734 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 24, 2020 | RCV002466879.1 | |
Likely benign (2) |
|
Dec 19, 2023 | RCV002573584.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024