Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001244792 | SCV001418036 | likely benign | Familial infantile myasthenia | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001799750 | SCV002043834 | uncertain significance | not provided | 2021-06-23 | 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; This variant is associated with the following publications: (PMID: 27535533, 12548525, 21786365) |