Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000414872 | SCV000492701 | likely pathogenic | Tremor; EMG: neuropathic changes; Limb muscle weakness | 2015-09-23 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000415393 | SCV000492749 | likely pathogenic | Sensorimotor neuropathy | 2015-09-23 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001196260 | SCV001366825 | likely pathogenic | Roussy-Lévy syndrome | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. |