Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595726 | SCV000703984 | pathogenic | not provided | 2016-11-28 | criteria provided, single submitter | clinical testing | |
Dobyns Lab, |
RCV000779638 | SCV000916315 | pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome; Cerebellar vermis hypoplasia | 2019-02-18 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV001257988 | SCV001434801 | likely pathogenic | Congenital cerebellar hypoplasia | no assertion criteria provided | research |