Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147010 | SCV000194350 | pathogenic | Lissencephaly due to LIS1 mutation | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV002273962 | SCV002559015 | pathogenic | Neurodevelopmental delay | criteria provided, single submitter | clinical testing | ||
University of Washington Center for Mendelian Genomics, |
RCV001291190 | SCV001479613 | likely pathogenic | Lissencephaly | no assertion criteria provided | research |