Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861051 | SCV001001261 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-02-16 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173194 | SCV001336274 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002372393 | SCV002687377 | likely benign | Inborn genetic diseases | 2018-01-31 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |