Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000612176 | SCV000722748 | likely benign | not specified | 2017-09-08 | 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. |
Labcorp Genetics |
RCV000868316 | SCV001009629 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001186528 | SCV001352984 | benign | Cardiomyopathy | 2018-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350487 | SCV002648857 | likely benign | Cardiovascular phenotype | 2020-07-23 | 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. |