Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000235076 | SCV000292370 | likely pathogenic | Peripheral neuropathy | 2015-08-18 | criteria provided, single submitter | research | Likely pathogenic based on conservation and prediction scores (Phylop, Polyphen, SIFT, MutationTaster) . Variant segregated with the disease in a family with demyelinating peripheral neuropathy. Supported by function of encoded protein in myelin and zebrafish functional assay (PMID: 26257172). |
OMIM | RCV000736030 | SCV000864249 | pathogenic | PMP2-related Charcot-Marie-Tooth disease type 1 | 2019-01-16 | no assertion criteria provided | literature only |