Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001184528 | SCV001350522 | likely benign | Cardiomyopathy | 2019-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002529947 | SCV001615196 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-07-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000639151 | SCV002497003 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | RYR2: BP4, BP7 |
Ambry Genetics | RCV002343259 | SCV002651080 | likely benign | Cardiovascular phenotype | 2021-07-22 | 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. |