Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001191229 | SCV001358972 | likely benign | Cardiomyopathy | 2019-01-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379736 | SCV002690114 | likely benign | Cardiovascular phenotype | 2020-05-26 | 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 | RCV002560105 | SCV003461085 | likely benign | Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 | 2022-07-22 | criteria provided, single submitter | clinical testing |