Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV001007853 | SCV001167551 | uncertain significance | Flexion contracture | no assertion criteria provided | research | ||
OMIM | RCV003160165 | SCV003853596 | pathogenic | Congenital myopathy 20 | 2023-04-07 | no assertion criteria provided | literature only |