Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001843164 | SCV001349262 | likely benign | Cardiac arrhythmia | 2019-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001227683 | SCV001400052 | likely benign | Long QT syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001707864 | SCV001935908 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379709 | SCV002692807 | likely benign | Cardiovascular phenotype | 2019-10-30 | 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. |