Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000419882 | SCV000519125 | likely benign | not specified | 2015-10-22 | 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. |
Color Diagnostics, |
RCV000771984 | SCV000904939 | likely benign | Cardiomyopathy | 2018-10-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002062348 | SCV002344356 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2023-09-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429379 | SCV002729183 | likely benign | Cardiovascular phenotype | 2022-09-26 | 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, |
RCV003996053 | SCV004816088 | likely benign | Familial isolated arrhythmogenic right ventricular dysplasia | 2023-05-31 | criteria provided, single submitter | clinical testing |