Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708386 | SCV000837496 | uncertain significance | X-linked Emery-Dreifuss muscular dystrophy | 2018-01-30 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the EMD gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Isolated whole-gene duplications of EMD have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 16080119, 23169761). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |