Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194171 | SCV000247213 | uncertain significance | not specified | 2014-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000703958 | SCV000832888 | benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-11-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000842603 | SCV000984631 | likely benign | not provided | 2021-03-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345690 | SCV002652360 | likely benign | Inborn genetic diseases | 2019-10-07 | 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. |