ClinVar Genomic variation as it relates to human health
NM_001793.6(CDH3):c.142G>C (p.Gly48Arg)
Germline
Classification
(2)
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 | |||
CDH3 | - | - |
GRCh38 GRCh37 |
694 | 821 | |
CDH3-AS1 | - | - | - | GRCh38 | - | 87 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 12, 2022 | RCV003049750.2 | |
Uncertain significance (1) |
|
Oct 3, 2022 | RCV003049751.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024