Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001702304 | SCV002762159 | likely pathogenic | not provided | 2022-06-07 | criteria provided, single submitter | clinical testing | Reported in individuals with Brugada syndrome and/or progressive cardiac conduction disease (Meregalli et al., 2009; Wijeyeratne et al., 2020); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33164571, 19251209) |
Genome Diagnostics Laboratory, |
RCV001702304 | SCV001929274 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001702304 | SCV001957560 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001702304 | SCV002034590 | pathogenic | not provided | no assertion criteria provided | clinical testing |