Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000419934 | SCV000515338 | likely benign | not specified | 2016-03-02 | 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. |
Invitae | RCV000529835 | SCV000641975 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001188956 | SCV001356147 | likely benign | Cardiomyopathy | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000419934 | SCV001433086 | likely benign | not specified | 2020-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168633 | SCV003855997 | likely benign | Cardiovascular phenotype | 2022-12-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |