Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000850830 | SCV000993063 | uncertain significance | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.5672T>C variant in MT-TN gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BP4, PP7 |
Medical Genetics, |
RCV001090134 | SCV001244366 | likely pathogenic | Mitochondrial disease | 2019-10-01 | no assertion criteria provided | in vitro | Proximal muscle weakness in lower limbs, exercise intolerance, myalgia, CPEO |