Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostic Laboratory, |
RCV001257618 | SCV001434428 | likely pathogenic | Intellectual disability | 2020-04-20 | criteria provided, single submitter | clinical testing | |
Department of Clinical Genetics, |
RCV002226759 | SCV002505870 | likely pathogenic | Smith-Magenis syndrome | 2021-08-01 | criteria provided, single submitter | clinical testing |