Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 c.3190+2T>G
(
ENST00000399249.6,
ENST00000545968.6 )
MYBPC3 c.3190+2T>G ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- Left ventricular noncompaction 10 hypertrophic cardiomyopathy 4
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.3190+2T>G AND multiple conditions
- ClinVar Allele ID
- 51861
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.3190+2T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-04-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002477068
- ClinVar Disease
- Hypertrophic cardiomyopathy 4
- ClinVar Disease
- Left ventricular noncompaction 10
- Observed Origin Sample
- unknown
Drugs