ClinVar Genomic variation as it relates to human health
NM_001873.4(CPE):c.889C>T (p.Arg297Trp)
Germline
Classification
(3)
Uncertain significance
criteria provided, multiple submitters, no conflicts
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 | |||
CPE | - | - |
GRCh38 GRCh37 |
73 | 128 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 13, 2023 | RCV003427704.4 | |
Uncertain significance (1) |
|
Dec 9, 2023 | RCV003730429.1 | |
Uncertain significance (1) |
|
Mar 1, 2023 | RCV003178564.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024