ClinVar Genomic variation as it relates to human health
NM_031293.3(PMFBP1):c.501C>T (p.Ala167=)
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
PMFBP1 | - | - |
GRCh38 GRCh37 |
99 | 137 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
PMFBP1-related disorder
|
Likely benign (1) |
|
Mar 6, 2019 | RCV003946833.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024