Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000853239 | SCV000996052 | likely pathogenic | Hypertrophic cardiomyopathy 4 | 2016-12-09 | criteria provided, single submitter | clinical testing | The c.3184delG (p.Val1026LeufsTer13) variant is a frameshifting variant that is predicted to result in the premature truncation of the MYBPC3 protein. This variant was not previously reported in the literature and was not found in the 1000 Genomes, Exome Variant Server (EVS), and Exome Aggregation Consortium (ExAC) databases. Based on the predicted impact of this frameshifting variant, the p.Val1026LeufsTer13 variant is classified as likely pathogenic. |