Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146386 | SCV000193670 | likely pathogenic | Severe X-linked myotubular myopathy | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003322752 | SCV004028391 | uncertain significance | not provided | 2023-02-21 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Reported heterozygous in female with centronuclear myopathy, however limited genes were evaluated and no X-inactivation studies were performed (Bevilacqua et al., 2009); This variant is associated with the following publications: (PMID: 24451234, 26995067, 30149909, 27017278, 19084976) |