Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703838 | SCV000524695 | likely benign | not provided | 2021-06-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000528560 | SCV000640029 | likely benign | Creatine transporter deficiency | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001703838 | SCV004184952 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | SLC6A8: BP4, BP7, BS2 |