Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000473124 | SCV000561711 | benign | Arrhythmogenic right ventricular dysplasia 11 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704578 | SCV000728906 | likely benign | not provided | 2021-03-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000777815 | SCV000913810 | likely benign | Cardiomyopathy | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402354 | SCV002711639 | likely benign | Cardiovascular phenotype | 2018-08-15 | 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. |
Fulgent Genetics, |
RCV000473124 | SCV002813181 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2021-08-11 | criteria provided, single submitter | clinical testing |