Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514571 | SCV000610927 | uncertain significance | not provided | 2017-08-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514571 | SCV001985390 | uncertain significance | not provided | 2020-06-03 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23430795, 22142868, 20818383) |
Biochemical Molecular Genetic Laboratory, |
RCV001027993 | SCV001190752 | likely pathogenic | Mitochondrial complex 1 deficiency, nuclear type 2 | 2020-02-05 | no assertion criteria provided | clinical testing |