Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000611106 | SCV000724457 | likely benign | not specified | 2017-11-09 | 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 |
RCV002065381 | SCV002371646 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003372769 | SCV004096433 | likely benign | Cardiovascular phenotype | 2023-08-07 | 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. |
All of Us Research Program, |
RCV004002561 | SCV004843603 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2023-10-23 | criteria provided, single submitter | clinical testing |