Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481693 | SCV000566109 | likely pathogenic | not provided | 2019-12-12 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV001256839 | SCV001433324 | pathogenic | Conduction disorder of the heart | 2020-03-01 | criteria provided, single submitter | clinical testing |