Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000870351 | SCV001011844 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001187618 | SCV001354468 | likely benign | Cardiomyopathy | 2018-12-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001553575 | SCV001774475 | likely benign | not specified | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003169167 | SCV003858288 | likely benign | Cardiovascular phenotype | 2023-02-16 | 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. |
Ce |
RCV003456446 | SCV004185105 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | DSG2: BP4, BP7 |
All of Us Research Program, |
RCV004003061 | SCV004821769 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2024-08-06 | criteria provided, single submitter | clinical testing |