Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Statistical Genetics, |
RCV001252514 | SCV001519457 | likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language | 2021-03-17 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV001252514 | SCV001428271 | likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language | 2019-01-01 | no assertion criteria provided | clinical testing |