Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000426335 | SCV000511314 | uncertain significance | not provided | 2017-01-04 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Gene |
RCV000426335 | SCV001985389 | uncertain significance | not provided | 2021-01-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30055843, 9837812) |
OMIM | RCV000007942 | SCV000028147 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 2 | 1998-12-01 | no assertion criteria provided | literature only |