ClinVar Genomic variation as it relates to human health
NM_181675.4(PPP2R2B):c.1114G>C (p.Asp372His)
Germline
Classification
(1)
Uncertain significance
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 | |||
CTB-99A3.1 | - | - | - | GRCh38 | - | 24 |
PPP2R2B | - | - |
GRCh38 GRCh37 |
33 | 81 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 25, 2023 | RCV003441527.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 25, 2023