Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000811365 | SCV000951626 | pathogenic | Qualitative or quantitative defects of dysferlin | 2018-09-04 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the DYSF gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with DYSF-related disease. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). For these reasons, this variant has been classified as Pathogenic. |