Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544436 | SCV000634104 | likely benign | Familial infantile myasthenia | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001662543 | SCV001875028 | uncertain significance | not provided | 2021-07-30 | 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 |
Revvity Omics, |
RCV000544436 | SCV003833226 | uncertain significance | Familial infantile myasthenia | 2019-02-20 | criteria provided, single submitter | clinical testing |