Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001560355 | SCV001782747 | pathogenic | not provided | 2022-12-15 | criteria provided, single submitter | clinical testing | Missense variants in this gene are often considered pathogenic (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 9361298, 11271367, 12614935) |
Inherited Neuropathy Consortium | RCV000789184 | SCV000928536 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |