Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Medical Genetics and Molecular Medicine, |
RCV001353196 | SCV001435355 | pathogenic | Beckwith-Wiedemann syndrome; IMAGe syndrome | 2020-10-05 | criteria provided, single submitter | clinical testing |