Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151534 | SCV000199652 | uncertain significance | not specified | 2014-09-29 | criteria provided, single submitter | clinical testing | The 2148+4T>C variant in NEBL has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 2/8600 European American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/) and 2/248 Hispanic chromosomes by the 1000 Genomes Project (dbSNP rs193163659). Thi s variant is located in the 5' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to ru le out pathogenicity. In summary, the clinical significance of the 2148+4T>C var iant is uncertain. |
Gene |
RCV000151534 | SCV000534210 | likely benign | not specified | 2017-10-31 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000981761 | SCV001129761 | likely benign | Primary dilated cardiomyopathy | 2023-08-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003415990 | SCV004126532 | benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | NEBL: BS1, BS2 |