Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038685 | SCV000062363 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | 1449+14G>A in intron 14 of NEBL: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 1/7020 European American chromosomes from a broad populati on by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). 14 49+14G>A in intron 14 of NEBL (allele frequency= 1/7020) ** |
Gene |
RCV000038685 | SCV000513903 | benign | not specified | 2015-04-13 | 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. |
Invitae | RCV002054711 | SCV002450797 | likely benign | Primary dilated cardiomyopathy | 2024-01-17 | criteria provided, single submitter | clinical testing |