Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001173337 | SCV001336425 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Gene |
RCV003227920 | SCV003924815 | likely pathogenic | not provided | 2022-11-10 | criteria provided, single submitter | clinical testing | Observed in an individual with suspected Charcot Marie Tooth disease in published literature; however, no further clinical or segregation information was provided (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: 24388491, 25439726, 22965130, 32376792, 15108294) |