Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cole/Wambach Lab, |
RCV000757952 | SCV000886477 | pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | 2018-10-01 | criteria provided, single submitter | research | |
Gene |
RCV001592941 | SCV001824889 | pathogenic | not provided | 2022-06-06 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30414627) |
University of Washington Center for Mendelian Genomics, |
RCV000757952 | SCV001479500 | likely pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | no assertion criteria provided | research |