Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038318 | SCV000061987 | likely benign | not specified | 2011-12-21 | criteria provided, single submitter | clinical testing | -22-15C>G in intron 1 of ACTC: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence and has been identified in 3/3738 African American chromosomes by the NHBLI Exome seque ncing project in a clinical cohort that included individuals with heart disease (http://evs.gs.washington.edu/EVS). -22-15C>G in intron 1 of ACTC (NHBLI Exome Seq Project; 3/3738) |
Gene |
RCV000038318 | SCV000207698 | benign | not specified | 2014-09-22 | 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. |