Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000235085 | SCV000292345 | likely pathogenic | Charcot-Marie-Tooth disease, type 2A2A | 2015-08-18 | criteria provided, single submitter | research | This variant affects a highly conserved residue in MFN2 and is predicted damaging by MutationTaster, SIFT, Polyphen. Patient has peripheral neuropathy. |