Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MGZ Medical Genetics Center | RCV000029244 | SCV002579068 | pathogenic | Neuronopathy, distal hereditary motor, type 5B | 2022-04-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000029244 | SCV000051890 | pathogenic | Neuronopathy, distal hereditary motor, type 5B | 2012-07-13 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium | RCV000789557 | SCV000928913 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |