Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587738 | SCV000696325 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000870011 | SCV001011481 | likely benign | Hypertrophic cardiomyopathy | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001180321 | SCV001345220 | likely benign | Cardiomyopathy | 2019-07-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002438523 | SCV002746375 | likely benign | Cardiovascular phenotype | 2020-05-14 | 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. |
All of Us Research Program, |
RCV000870011 | SCV004836713 | likely benign | Hypertrophic cardiomyopathy | 2023-12-18 | criteria provided, single submitter | clinical testing |