Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000235092 | SCV000292351 | likely pathogenic | Charcot-Marie-Tooth disease, type 2A2A | 2015-08-18 | criteria provided, single submitter | research | Likely pathogenic based on conservation and prediction scores (Phylop, Polyphen, SIFT, MutationTaster) and consistent with peripheral axonal neuropathy of individual. |