Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Inherited Metabolic Diseases, |
RCV002306428 | SCV002601587 | likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 2022-05-14 | criteria provided, single submitter | clinical testing |