Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652022 | SCV000773881 | likely benign | Nemaline myopathy 9 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001576006 | SCV001803112 | uncertain significance | not provided | 2020-12-31 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |