Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000526287 | SCV000651670 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-12-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000600529 | SCV000719566 | likely benign | not specified | 2017-05-24 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002316576 | SCV000851274 | likely benign | Inborn genetic diseases | 2016-10-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Molecular Genetics Laboratory, |
RCV001173182 | SCV001336262 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |