Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kids Research, |
RCV001089492 | SCV001244736 | pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | criteria provided, single submitter | research | ||
Gene |
RCV001664677 | SCV001872890 | pathogenic | not provided | 2021-07-06 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27535533, 29205472, 32313153) |
Genome- |
RCV001089492 | SCV002554836 | pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing |