Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000981119 | SCV001129085 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001277299 | SCV001464240 | uncertain significance | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2020-01-24 | no assertion criteria provided | clinical testing |