Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038687 | SCV000062365 | likely benign | not specified | 2012-11-20 | criteria provided, single submitter | clinical testing | 153+15T>G in intron 2 of NEBL: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. 153+ 15T>G in intron 2 of NEBL (allele frequency = n/a) |
Gene |
RCV000038687 | SCV000170728 | benign | not specified | 2014-05-23 | 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 |
RCV002054712 | SCV002392256 | benign | Primary dilated cardiomyopathy | 2023-12-14 | criteria provided, single submitter | clinical testing |