Annotation Detail
Information
- Associated Genes
- EPCAM
- Associated Variants
-
EPCAM c.556-14A>C
(
ENST00000263735.9,
ENST00000405271.5 )
EPCAM c.556-14A>C ( ENST00000263735.9, ENST00000405271.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_002354.3(EPCAM):c.556-14A>C AND not provided
- ClinVar Allele ID
- 1069670
- ClinVar RefSeq Alternation Syntax
- NM_002354.3:c.556-14A>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2024-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003656971
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs