Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cole/Wambach Lab, |
RCV000755668 | SCV000886475 | pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | 2018-10-01 | criteria provided, single submitter | research | |
Gene |
RCV000760689 | SCV000890581 | pathogenic | not provided | 2018-08-20 | criteria provided, single submitter | clinical testing | The R669X nonsense variant in the POLR3A gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the R669X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R669X as a pathogenic variant. |
Invitae | RCV000760689 | SCV001397179 | pathogenic | not provided | 2021-09-15 | criteria provided, single submitter | clinical testing | |
Kasturba Medical College, |
RCV000755668 | SCV001478355 | pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | 2019-05-12 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000755668 | SCV000883070 | pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | 2022-05-24 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV000755668 | SCV001479498 | likely pathogenic | Neonatal pseudo-hydrocephalic progeroid syndrome | no assertion criteria provided | research | ||
Genomics England Pilot Project, |
RCV001542770 | SCV001760258 | likely pathogenic | Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | no assertion criteria provided | clinical testing |