Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547426 | SCV000627587 | likely benign | Long QT syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618548 | SCV000737965 | likely benign | Cardiovascular phenotype | 2017-03-22 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002222544 | SCV002500350 | likely benign | not specified | 2022-03-13 | criteria provided, single submitter | clinical testing |