Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000850706 | SCV000992939 | benign | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.3275C>T variant in MT-TL1 gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS4, BP4 |
Center for Neuroscience and Cell Biology, |
RCV000408925 | SCV000484511 | uncertain significance | Leber optic atrophy | 2016-11-21 | no assertion criteria provided | clinical testing | |
Center for Neuroscience and Cell Biology, |
RCV000408938 | SCV000484512 | uncertain significance | Myopia; Hepatic steatosis; Hepatitis; Fibrosis | 2016-11-21 | no assertion criteria provided | clinical testing | |
Center for Neuroscience and Cell Biology, |
RCV000408950 | SCV000484513 | uncertain significance | Neuromuscular disease; Developmental delay | 2016-11-21 | no assertion criteria provided | clinical testing | |
Center for Neuroscience and Cell Biology, |
RCV000408928 | SCV000484514 | uncertain significance | Developmental delay | 2016-11-21 | no assertion criteria provided | clinical testing |