Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659506 | SCV000781325 | likely pathogenic | Marfan syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Centre of Medical Genetics, |
RCV000659506 | SCV002025400 | pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PVS1, PP4 |