Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001093004 | SCV001249773 | pathogenic | not provided | 2018-01-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000010683 | SCV000030909 | pathogenic | X-linked hydrocephalus syndrome | 2006-05-01 | no assertion criteria provided | literature only | |
OMIM | RCV000010684 | SCV000030910 | pathogenic | Corpus callosum, partial agenesis of, X-linked | 2006-05-01 | no assertion criteria provided | literature only | |
Dobyns Lab, |
RCV000010684 | SCV000916343 | pathogenic | Corpus callosum, partial agenesis of, X-linked | 2019-02-18 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV001257991 | SCV001434804 | likely pathogenic | Congenital cerebellar hypoplasia | no assertion criteria provided | research |