Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV000626052 | SCV000746672 | pathogenic | Charcot-Marie-Tooth disease, axonal, type 2S | 2017-03-24 | criteria provided, single submitter | research | This individual has been reported in PMID: 31020813. |