Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000442702 | SCV000520845 | likely pathogenic | not provided | 2023-03-10 | 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 (gnomAD); This variant is associated with the following publications: (PMID: 20819849, 36557887, 9837812) |
Fulgent Genetics, |
RCV000762861 | SCV000893225 | likely pathogenic | Leigh syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000007941 | SCV000028146 | pathogenic | Mitochondrial complex 1 deficiency, nuclear type 2 | 1998-12-01 | no assertion criteria provided | literature only |