Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000022934 | SCV000044225 | pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 2012-05-29 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium Ii, |
RCV003447094 | SCV004174795 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2016-01-06 | no assertion criteria provided | literature only |