Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002489139 | SCV002793923 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 5 | 2022-05-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003105917 | SCV003761706 | uncertain significance | not provided | 2023-01-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Division of Human Genetics, |
RCV000477869 | SCV000536744 | uncertain significance | Mitochondrial complex I deficiency | 2016-06-23 | no assertion criteria provided | research |