Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221494 | SCV000270096 | likely benign | not specified | 2014-12-19 | criteria provided, single submitter | clinical testing | c.639+13_639+15del in intron 2 of DES: This variant is not expected to have clin ical significance because it is not located within the splice consensus sequence . |
Invitae | RCV001467943 | SCV001671975 | likely benign | Desmin-related myofibrillar myopathy | 2023-05-21 | criteria provided, single submitter | clinical testing |