Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638796 | SCV000760345 | benign | Brugada syndrome | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001766366 | SCV002008020 | likely benign | not provided | 2018-11-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440259 | SCV002749627 | benign | Cardiovascular phenotype | 2021-04-02 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |