Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990189 | SCV001141039 | likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Laboratory of Inherited Metabolic Diseases, |
RCV000990189 | SCV002512065 | pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 2022-04-01 | criteria provided, single submitter | clinical testing |