Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000080338 | SCV000112233 | pathogenic | not provided | 2012-12-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000033957 | SCV000057887 | pathologic | Orofaciodigital syndrome I | 2013-02-28 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |