Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000502695 | SCV000598141 | likely pathogenic | Hereditary motor and sensory neuropathy with optic atrophy | 2016-12-06 | criteria provided, single submitter | clinical testing | This variant was found in a patient diagnosed with complex Charcot Marie Tooth disease and optic atrophy. The patient harbours a large duplication in the CMT1A region, in addition to this variant in MFN2 gene. The identification of these two mutations explains the complex phenotype of this patient. |