Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000758256 | SCV000886523 | pathogenic | Propionic acidemia; Cardiomyopathy; Lactic acidosis | 2019-02-27 | criteria provided, single submitter | in vitro | |
OMIM | RCV001003400 | SCV001161687 | pathogenic | Mitochondrial complex 3 deficiency, nuclear type 10 | 2020-02-14 | no assertion criteria provided | literature only | |
Undiagnosed Diseases Network, |
RCV001003400 | SCV002818552 | likely pathogenic | Mitochondrial complex 3 deficiency, nuclear type 10 | 2021-07-12 | no assertion criteria provided | clinical testing |