Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre of Medical Genetics, |
RCV000663650 | SCV002025281 | likely pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PS6, PP4 |
Laboratory of Medical Genetics, |
RCV000663650 | SCV002577409 | pathogenic | Marfan syndrome | 2022-06-20 | criteria provided, single submitter | clinical testing | PM2, PP2, PP3, PP5 |
Center for Medical Genetics Ghent, |
RCV000663650 | SCV000786977 | uncertain significance | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |