Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000867932 | SCV000729870 | likely benign | not provided | 2019-11-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001504445 | SCV001709322 | likely benign | Brugada syndrome 5 | 2023-07-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377325 | SCV002686998 | likely benign | Cardiovascular phenotype | 2019-03-04 | 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. |