Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatric Department, |
RCV001260946 | SCV001245551 | likely pathogenic | Centronuclear myopathy | 2020-04-11 | criteria provided, single submitter | provider interpretation | |
Gene |
RCV003325543 | SCV004031601 | likely pathogenic | not provided | 2023-03-03 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35693006, 35081925, 12668474) |