Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001442164 | SCV001645108 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2019-09-25 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004007022 | SCV004829018 | likely benign | Familial isolated arrhythmogenic right ventricular dysplasia | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004038400 | SCV005028143 | likely benign | Cardiovascular phenotype | 2023-11-26 | 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. |