Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208498 | SCV000263922 | likely pathogenic | Marfan syndrome | 2015-12-02 | criteria provided, single submitter | clinical testing | |
Centre of Medical Genetics, |
RCV000208498 | SCV002025435 | pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PVS1, PP4 |
Center for Medical Genetics Ghent, |
RCV000208498 | SCV000787304 | pathogenic | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |