Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Tartaglia Lab, |
RCV000754381 | SCV000786630 | likely pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | 2018-04-01 | criteria provided, single submitter | research | |
Cole/Wambach Lab, |
RCV000754381 | SCV000886474 | pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | 2018-10-01 | criteria provided, single submitter | research | |
DESAM Institute, |
RCV000754381 | SCV001424847 | pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | 2018-12-04 | no assertion criteria provided | clinical testing | |
University of Washington Center for Mendelian Genomics, |
RCV000754381 | SCV001479497 | likely pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | no assertion criteria provided | research |