Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, |
RCV000161909 | SCV001251032 | likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 | 2020-03-31 | criteria provided, single submitter | research | |
OMIM | RCV000161909 | SCV000211939 | pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 | 2014-11-04 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium | RCV000192266 | SCV000928439 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
Inherited Neuropathy Consortium Ii, |
RCV003447121 | SCV004174588 | uncertain significance | Autosomal recessive distal spinal muscular atrophy 2 | 2016-01-06 | no assertion criteria provided | literature only |