Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000850645 | SCV000992876 | likely pathogenic | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.618T>C variant in MT-TF gene is interpreted to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished).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: PM5, PM8, PM9, PP3 |
Mendelics | RCV002249541 | SCV002517692 | pathogenic | Mitochondrial disease | 2022-05-04 | criteria provided, single submitter | clinical testing |