Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619598 | SCV000738186 | likely benign | Cardiovascular phenotype | 2017-10-05 | 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. |
Invitae | RCV001499333 | SCV001704095 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003532204 | SCV004359082 | likely benign | Cardiomyopathy | 2022-11-06 | criteria provided, single submitter | clinical testing |