Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000942881 | SCV001088818 | likely benign | Combined malonic and methylmalonic acidemia | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003411901 | SCV004138202 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | ACSF3: BP4, BP7 |
Natera, |
RCV001278436 | SCV001465449 | likely benign | Methylmalonic acidemia | 2020-10-08 | no assertion criteria provided | clinical testing |