Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001179169 | SCV001343780 | likely benign | Cardiomyopathy | 2018-12-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001540243 | SCV001758104 | likely benign | not provided | 2018-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365849 | SCV002663556 | likely benign | Cardiovascular phenotype | 2022-03-21 | 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. |
Invitae | RCV003769939 | SCV004571276 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-10-04 | criteria provided, single submitter | clinical testing |