Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 c.852-1G>T
(
ENST00000545968.6,
ENST00000399249.6 )
MYBPC3 c.852-1G>T ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.852-1G>T AND Cardiomyopathy
- ClinVar Allele ID
- 172178
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.852-1G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-05-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001187132
- ClinVar Disease
- Cardiomyopathy
- Observed Origin Sample
- germline
Drugs