Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000762796 | SCV000893145 | likely pathogenic | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 2018-08-06 | criteria provided, single submitter | clinical testing |