Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001843167 | SCV001349293 | likely benign | Cardiac arrhythmia | 2019-09-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001644935 | SCV001858203 | likely benign | not provided | 2019-10-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001644935 | SCV002408170 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002327440 | SCV002628558 | likely benign | Cardiovascular phenotype | 2020-03-05 | 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. |