Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146648 | SCV000193957 | pathogenic | Cornelia de Lange syndrome 1 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Center of Genomic medicine, |
RCV000146648 | SCV000537717 | pathogenic | Cornelia de Lange syndrome 1 | 2014-03-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000146648 | SCV002054157 | pathogenic | Cornelia de Lange syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000146648 | SCV004805573 | uncertain significance | Cornelia de Lange syndrome 1 | 2024-03-25 | criteria provided, single submitter | research |