Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001718824 | SCV000512907 | benign | not provided | 2019-02-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000475598 | SCV000559782 | benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374628 | SCV002684952 | likely benign | Inborn genetic diseases | 2018-06-22 | 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. |