Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Medical Genetics, |
RCV000240669 | SCV000255980 | likely pathogenic | Charcot-Marie-Tooth disease, axonal, type 2S | 2015-10-21 | criteria provided, single submitter | research | |
Kariminejad - |
RCV000240669 | SCV001167085 | pathogenic | Charcot-Marie-Tooth disease, axonal, type 2S | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000192263 | SCV000239911 | pathogenic | Charcot-Marie-Tooth disease | 2015-04-30 | no assertion criteria provided | literature only | |
OMIM | RCV000240669 | SCV000245705 | pathogenic | Charcot-Marie-Tooth disease, axonal, type 2S | 2015-02-03 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium | RCV000789355 | SCV000928709 | uncertain significance | Autosomal dominant distal hereditary motor neuropathy | no assertion criteria provided | literature only |