Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001841158 | SCV001359823 | likely benign | Cardiac arrhythmia | 2018-12-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001545573 | SCV001764934 | likely benign | not provided | 2020-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429844 | SCV002681992 | likely benign | Cardiovascular phenotype | 2021-01-19 | 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. |
Invitae | RCV002560134 | SCV003020534 | likely benign | Long QT syndrome | 2023-12-23 | criteria provided, single submitter | clinical testing |