Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687637 | SCV000815217 | benign | Creatine transporter deficiency | 2023-06-01 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001814218 | SCV002061771 | uncertain significance | not provided | 2021-12-17 | criteria provided, single submitter | clinical testing | PM2 |
Natera, |
RCV001829900 | SCV002084588 | uncertain significance | Creatine deficiency syndrome 1 | 2020-03-24 | no assertion criteria provided | clinical testing |