Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kasturba Medical College, |
RCV002227890 | SCV002507154 | likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 2022-05-09 | criteria provided, single submitter | clinical testing |