Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001300111 | SCV001489235 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002447284 | SCV002612524 | likely benign | Cardiovascular phenotype | 2022-03-31 | 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. |
Fulgent Genetics, |
RCV002493584 | SCV002800729 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB | 2021-10-04 | criteria provided, single submitter | clinical testing |