Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV000171277 | SCV000221474 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Gene |
RCV000171277 | SCV000330366 | pathogenic | not provided | 2023-05-17 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Nonsense 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; This variant is associated with the following publications: (PMID: 26112015, 29897170, 29620724) |