Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193764 | SCV000247247 | pathogenic | Chondrodysplasia punctata 2 X-linked dominant | 2015-06-18 | criteria provided, single submitter | clinical testing |