Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV002265825 | SCV000746558 | pathogenic | Desmin-related myofibrillar myopathy | 2017-01-31 | criteria provided, single submitter | clinical testing | This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID: 18414213) and was found homozygous in an 18-year-old male with congenital hypotonia, motor delay, progressive muscle weakness, bilateral ptosis, ophthalmoparesis, tachycardia, myopathy on EMG, mild left median neuropathy on NCV, and ragged red fibers. In this consanguineous family, the variant segregated with disease in two affected siblings and 5 affected cousins. |
Ce |
RCV001531343 | SCV001746397 | pathogenic | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing |