Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124799 | SCV000168238 | benign | not specified | 2014-03-21 | 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. |
Ambry Genetics | RCV000246448 | SCV000318701 | likely benign | Cardiovascular phenotype | 2015-12-30 | 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. |
Labcorp Genetics |
RCV000477417 | SCV000561403 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-12-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001182478 | SCV001347940 | likely benign | Cardiomyopathy | 2019-01-27 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000124799 | SCV004029354 | likely benign | not specified | 2023-07-30 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997426 | SCV004819548 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2023-11-30 | criteria provided, single submitter | clinical testing |