Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000784994 | SCV000923544 | uncertain significance | Mitochondrial complex I deficiency | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002305537 | SCV002599681 | uncertain significance | not provided | 2022-11-02 | 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 |