Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000978812 | SCV001126746 | likely benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001827088 | SCV002076165 | likely benign | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2020-01-31 | no assertion criteria provided | clinical testing |