Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV000551372 | SCV000622152 | pathogenic | Marfan syndrome | 2016-05-30 | criteria provided, single submitter | clinical testing | Pathogenic variant based on genotype/phenotype relationship. |
Center for Medical Genetics Ghent, |
RCV000551372 | SCV000787428 | likely pathogenic | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |