Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001843156 | SCV001348961 | likely benign | Cardiac arrhythmia | 2018-12-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003657048 | SCV001644601 | likely benign | not provided | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429820 | SCV002743573 | likely benign | Cardiovascular phenotype | 2019-07-18 | 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. |