Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001364544 | SCV001560698 | uncertain significance | not provided | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Laboratory of Inherited Metabolic Diseases, |
RCV002242574 | SCV002512063 | pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 2022-04-01 | criteria provided, single submitter | clinical testing |