relatively As of 2020, there was a single 1KGP indicated affected individual. We examined the responsible ClinVar variant and found this variant could not be ruled out as disease-causing. GenMed Metabolism Lab submitted this variant, NM_000531.6:p.Gly50Arg inOTC, an X-linked gene, in 2014 ...
For example, GenMed Metabolism Lab submitted the first classification for all three variants in OTC, and OMIM first provided both PRODH variants. For each variant, we also recorded the submitter that contributed the first non-pathogenic classification but did not identify any patterns (Additional ...