Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001573522 | SCV000532481 | likely benign | not provided | 2021-10-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 11735026, 15990952, 10942104) |
Invitae | RCV000627837 | SCV000748719 | likely benign | Supravalvar aortic stenosis | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001573522 | SCV004185446 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | ELN: BP4, BS1 |
Laboratory of Diagnostic Genome Analysis, |
RCV001573522 | SCV001799518 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001573522 | SCV001929569 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001573522 | SCV001965267 | likely benign | not provided | no assertion criteria provided | clinical testing |