Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000677285 | SCV000803418 | likely pathogenic | not provided | 2018-06-21-05:00 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000677285 | SCV004034942 | pathogenic | not provided | 2023-03-10 | criteria provided, single submitter | clinical testing | 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30929739, 30311385) |