ClinVar Genomic variation as it relates to human health
NM_002608.4(PDGFB):c.338G>A (p.Arg113His)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(2)
Uncertain significance(1); Likely benign(2)
criteria provided, conflicting classifications
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 | |||
PDGFB | - | - |
GRCh38 GRCh37 |
152 | 178 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 27, 2022 | RCV002990831.2 | |
Likely benign (2) |
|
Mar 1, 2024 | RCV003730343.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024