Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wendy Chung Laboratory, |
RCV001290417 | SCV001427056 | likely pathogenic | Leigh syndrome | 2020-08-09 | criteria provided, single submitter | research | |
Undiagnosed Diseases Network, |
RCV001257515 | SCV001430892 | pathogenic | ATP5PO-related disorder | 2020-06-29 | criteria provided, single submitter | clinical testing | |
OMIM | RCV003227945 | SCV003922387 | pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 | 2023-05-04 | no assertion criteria provided | literature only |