Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centro Nacional de Genética Medica "Dr. |
RCV000856638 | SCV000966009 | pathogenic | Proximal 16p11.2 microdeletion syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing |