Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001841072 | SCV001356326 | likely benign | Cardiac arrhythmia | 2020-03-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348631 | SCV002652275 | likely benign | Cardiovascular phenotype | 2021-11-09 | 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 | RCV003658332 | SCV003248828 | likely benign | not provided | 2023-05-16 | criteria provided, single submitter | clinical testing |