Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861582 | SCV001001946 | likely benign | Long QT syndrome | 2020-06-20 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001842020 | SCV001356812 | likely benign | Cardiac arrhythmia | 2018-11-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002279567 | SCV002567374 | uncertain significance | not provided | 2022-06-16 | criteria provided, single submitter | clinical testing | Identified in two individuals with phenotype of unspecified arrhythmia in the literature (PMID: 30847666); In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 30847666) |