Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001471889 | SCV001676010 | likely benign | Brugada syndrome 8 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001664891 | SCV001875435 | likely benign | not provided | 2019-03-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003382599 | SCV004097053 | likely benign | Cardiovascular phenotype | 2023-09-01 | 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. |