Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV002265588 | SCV000537743 | likely pathogenic | Desmin-related myofibrillar myopathy | 2015-03-16 | criteria provided, single submitter | clinical testing | This variant was inherited from the mother, who has the same symptoms as the patient. |
Epithelial Biology; Institute of Medical Biology, |
RCV000056779 | SCV000087892 | not provided | not provided | no assertion provided | not provided |