Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156879 | SCV000206600 | uncertain significance | not specified | 2014-11-10 | criteria provided, single submitter | clinical testing | The c.1338-11G>A in RBM20 has not been previously reported in individuals with c ardiomyopathy and has not been identified in large population databases, though it is listed in dbSNP (rs372064165) without frequency information. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pat hogenicity. In summary, the clinical significance of the c.1338-11G>A variant is uncertain. |
Gene |
RCV000156879 | SCV000514380 | benign | not specified | 2016-07-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV002053896 | SCV002455460 | likely benign | Dilated cardiomyopathy 1DD | 2023-09-20 | criteria provided, single submitter | clinical testing |