Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720009 | SCV000515818 | likely benign | not provided | 2019-01-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000653970 | SCV000775860 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172980 | SCV001336055 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002461141 | SCV002755196 | likely benign | Inborn genetic diseases | 2019-07-11 | 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. |