Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001707821 | SCV000726331 | likely benign | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000865814 | SCV001006836 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001190487 | SCV001357988 | likely benign | Cardiomyopathy | 2020-02-04 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000604804 | SCV001433084 | likely benign | not specified | 2019-10-17 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001190487 | SCV002043137 | likely benign | Cardiomyopathy | 2020-03-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002385928 | SCV002692434 | likely benign | Cardiovascular phenotype | 2020-12-04 | 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, |
RCV004002581 | SCV004819530 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2023-12-13 | criteria provided, single submitter | clinical testing |