Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147141 | SCV000194501 | pathogenic | Microcephalic osteodysplastic primordial dwarfism type II | 2013-08-22 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostics Lab, |
RCV000147141 | SCV003936047 | likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II | 2020-05-01 | criteria provided, single submitter | clinical testing |