Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001173050 | SCV001336125 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002558746 | SCV003006952 | uncertain significance | Charcot-Marie-Tooth disease type 2E | 2022-06-03 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. ClinVar contains an entry for this variant (Variation ID: 916904). This variant has not been reported in the literature in individuals affected with NEFL-related conditions. This variant is present in population databases (rs762116919, gnomAD 0.01%). This sequence change falls in intron 2 of the NEFL gene. It does not directly change the encoded amino acid sequence of the NEFL protein. |