Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001342121 | SCV001536032 | uncertain significance | not provided | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Laboratory of Inherited Metabolic Diseases, |
RCV002242312 | SCV002512059 | pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 2022-04-01 | criteria provided, single submitter | clinical testing |