Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000803302 | SCV000943166 | likely benign | Long QT syndrome | 2023-09-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001532202 | SCV001747645 | uncertain significance | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345797 | SCV002649366 | likely benign | Cardiovascular phenotype | 2023-05-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |