Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000945937 | SCV001092012 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001573578 | SCV004169894 | uncertain significance | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Laboratory of Diagnostic Genome Analysis, |
RCV001573578 | SCV001799676 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001573578 | SCV001965707 | likely benign | not provided | no assertion criteria provided | clinical testing |