Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000851036 | SCV000993270 | benign | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.12192G>A variant in MT-TH gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished).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, BS2, BP4 |
OMIM | RCV000010231 | SCV000030455 | pathogenic | Cardiomyopathy, idiopathic dilated, mitochondrial | 2003-01-01 | no assertion criteria provided | literature only | |
OMIM | RCV000010232 | SCV000030456 | pathogenic | Cardiomyopathy, hypertrophic, mitochondrial | 2003-01-01 | no assertion criteria provided | literature only |