Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861141 | SCV001001369 | likely benign | Long QT syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001842019 | SCV001357902 | likely benign | Cardiac arrhythmia | 2018-10-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002409012 | SCV002722415 | likely benign | Cardiovascular phenotype | 2021-10-01 | 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. |