Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000444309 | SCV000525236 | likely benign | not specified | 2016-03-04 | 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 | RCV001479985 | SCV001684293 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-02-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001805050 | SCV002052665 | likely benign | Cardiomyopathy | 2021-04-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374667 | SCV002624597 | likely benign | Cardiovascular phenotype | 2020-03-04 | 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. |