Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649557 | SCV000771386 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-10-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002260655 | SCV002540373 | uncertain significance | not provided | 2022-06-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26100331, 25609763, 25512093) |