Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703699 | SCV000522277 | benign | not provided | 2020-10-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000536522 | SCV000631962 | benign | Deficiency of hydroxymethylglutaryl-CoA lyase | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000536522 | SCV004172283 | benign | Deficiency of hydroxymethylglutaryl-CoA lyase | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833534 | SCV002094163 | likely benign | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2019-12-04 | no assertion criteria provided | clinical testing |