Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498774 | SCV000589871 | likely pathogenic | not provided | 2022-11-22 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV001782991 | SCV002022043 | likely pathogenic | Myopathy, centronuclear, 2 | 2020-03-27 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV001782991 | SCV004806100 | pathogenic | Myopathy, centronuclear, 2 | 2024-03-25 | criteria provided, single submitter | clinical testing |