Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000178843 | SCV000231008 | pathogenic | not provided | 2015-02-11 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000012522 | SCV000032756 | pathogenic | Oto-palato-digital syndrome, type II | 2009-12-15 | no assertion criteria provided | literature only |