Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001417326 | SCV001619526 | likely benign | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2023-06-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002264306 | SCV002544782 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | GLB1: BP4, BP7 |