Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000981052 | SCV001129016 | likely benign | not provided | 2023-10-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001277295 | SCV001464235 | uncertain significance | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2020-02-13 | no assertion criteria provided | clinical testing |