ClinVar Genomic variation as it relates to human health
NM_001012267.3(CENPP):c.503G>A (p.Arg168Gln)
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 | |||
CENPP | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
19 | 173 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CENPP-related disorder
|
Likely benign (1) |
|
Apr 28, 2022 | RCV003952289.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024