Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000851076 | SCV000993310 | uncertain significance | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.12293G>A variant in MT-TL2 gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished).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: PP3, PP6, BP5 |
Medical Genetics, |
RCV001090166 | SCV001244368 | pathogenic | Mitochondrial disease | 2019-10-01 | no assertion criteria provided | in vitro | The patient had exercise intolerance, myalgia, and unilateral ptosis. |