Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000828037 | SCV000969713 | likely benign | not provided | 2018-05-24 | 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. |
Labcorp Genetics |
RCV001081016 | SCV001081289 | likely benign | Lethal congenital glycogen storage disease of heart | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001177450 | SCV001341673 | likely benign | Cardiomyopathy | 2019-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415957 | SCV002681698 | likely benign | Cardiovascular phenotype | 2021-11-02 | 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, |
RCV004002879 | SCV004842223 | likely benign | Hypertrophic cardiomyopathy | 2023-10-27 | criteria provided, single submitter | clinical testing |