Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Medical Genetics Ghent, |
RCV000240649 | SCV000299259 | likely pathogenic | Dilated cardiomyopathy 1Y | 2016-02-09 | criteria provided, single submitter | clinical testing | This variant has not been identified in large population databases (Gnomad, 1000 Genomes, Go NL, Exome Variant Server) and is predicted to have an impact on protein function according to multiple prediction programs. This variant is a de novo variant (maternity and paternity was tested). |