Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659562 | SCV000781395 | uncertain significance | Marfan syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Centre of Medical Genetics, |
RCV000659562 | SCV002025380 | likely pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PS5, PP4 |