Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics |
RCV000626464 | SCV000746991 | pathogenic | Saldino-Mainzer syndrome; Cranioectodermal dysplasia | 2018-01-01 | criteria provided, single submitter | research |