Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001525829 | SCV001736026 | likely benign | Cardiomyopathy | 2021-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003161057 | SCV003866093 | likely benign | Cardiovascular phenotype | 2022-12-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Genome- |
RCV003451797 | SCV004177962 | likely benign | Dilated cardiomyopathy 1D | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451798 | SCV004177963 | likely benign | Cardiomyopathy, familial restrictive, 3 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451796 | SCV004177965 | likely benign | Hypertrophic cardiomyopathy 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001525829 | SCV004826236 | likely benign | Cardiomyopathy | 2023-06-26 | criteria provided, single submitter | clinical testing |