Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Neurogenomics lab, |
RCV000149554 | SCV000191984 | pathogenic | Spinal muscular atrophy | 2013-06-21 | criteria provided, single submitter | research | absent in 179 ethnically matched controls |
Inherited Neuropathy Consortium Ii, |
RCV003447119 | SCV004174800 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2016-01-06 | no assertion criteria provided | literature only |