ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.-22-15C>G (rs368171271)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized 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)
GeneDx 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.

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