Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000608077 | SCV000715650 | likely benign | not specified | 2017-02-06 | 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. |
Laboratory for Molecular Medicine, |
RCV000608077 | SCV000731264 | likely benign | not specified | 2016-11-17 | criteria provided, single submitter | clinical testing | c.2761+15C>T in intron 26 of NEBL: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. I t has been identified in 1/10392 African chromosomes by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs760162209). |
Invitae | RCV003767479 | SCV004681005 | likely benign | Primary dilated cardiomyopathy | 2023-03-20 | criteria provided, single submitter | clinical testing |