Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000654012 | SCV000775902 | likely benign | Charcot-Marie-Tooth disease type 2 | 2017-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331267 | SCV002633021 | likely benign | Cardiovascular phenotype | 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. |
Color Diagnostics, |
RCV003532225 | SCV004359111 | likely benign | Cardiomyopathy | 2022-03-02 | criteria provided, single submitter | clinical testing |