Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002251656 | SCV002522068 | uncertain significance | not provided | 2021-11-26 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002496185 | SCV002796885 | uncertain significance | Mitochondrial complex 4 deficiency, nuclear type 4 | 2022-05-27 | criteria provided, single submitter | clinical testing |