Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000851086 | SCV000993320 | likely pathogenic | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.12335T>C variant in MT-TL2 gene is interpreted to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PM8, PM9, PP3, PP7 |