Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154795 | SCV000204475 | uncertain significance | not specified | 2014-07-03 | criteria provided, single submitter | clinical testing | The 369+5G>A variant in NEBL has not been previously reported in individuals wit h cardiomyopathy, but has been identified in 4/8600 of European American chromos omes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; d bSNP rs200249470). This variant is located in the 5' splice region. Computationa l tools suggest an impact to splicing, but this information is not predictive en ough to determine pathogenicity. In summary, the clinical significance of the 36 9+5G>A variant is uncertain. |
Gene |
RCV000767201 | SCV000536533 | likely benign | not provided | 2021-08-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089297 | SCV001003312 | likely benign | Primary dilated cardiomyopathy | 2024-01-26 | criteria provided, single submitter | clinical testing |