Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001173567 | SCV001336664 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Gene |
RCV002509623 | SCV002818964 | uncertain significance | not provided | 2022-07-05 | criteria provided, single submitter | clinical testing | Reported as a single heterozygous variant of uncertain significance in a patient with Charcot-Marie-Tooth (Volodarsky et al., 2021); 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: 23560007, 32376792) |