Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000937693 | SCV001083483 | benign | Deficiency of hydroxymethylglutaryl-CoA lyase | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001576568 | SCV001803782 | likely benign | not provided | 2020-02-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000937693 | SCV004172294 | likely benign | Deficiency of hydroxymethylglutaryl-CoA lyase | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001273183 | SCV001455891 | uncertain significance | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2020-02-13 | no assertion criteria provided | clinical testing |