Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727972 | SCV000855488 | uncertain significance | not provided | 2017-07-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000727972 | SCV001086876 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727972 | SCV004699944 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | TRMU: BP4, BP7 |
Natera, |
RCV001277298 | SCV001464239 | likely benign | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2019-11-11 | no assertion criteria provided | clinical testing |