Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Consultorio y Laboratorio de Neurogenética, |
RCV001261527 | SCV001424326 | uncertain significance | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | criteria provided, single submitter | clinical testing |