Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV001170272 | SCV001332835 | uncertain significance | Cardiomyopathy | 2018-04-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003236872 | SCV003935454 | uncertain significance | not provided | 2022-12-22 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27532257, 29300372) |