Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001842704 | SCV001342073 | likely benign | Cardiac arrhythmia | 2019-12-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002473213 | SCV002770127 | uncertain significance | not provided | 2022-12-08 | criteria provided, single submitter | clinical testing | Reported in a patient with Brugada syndrome in published literature (Berthome et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 30193851) |
Invitae | RCV002473213 | SCV004301734 | likely benign | not provided | 2023-08-16 | criteria provided, single submitter | clinical testing |