Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hadassah Hebrew University Medical Center | RCV000991413 | SCV001142810 | likely pathogenic | Alveolar rhabdomyosarcoma; Myopathy, congenital, progressive, with scoliosis | 2019-06-20 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000850256 | SCV000992428 | pathogenic | Myopathy, congenital, progressive, with scoliosis | 2023-03-10 | no assertion criteria provided | literature only | |
Section for Clinical Neurogenetics, |
RCV000850256 | SCV001156096 | likely pathogenic | Myopathy, congenital, progressive, with scoliosis | 2019-08-01 | no assertion criteria provided | research |