ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1932C>A (p.Ala644=) (rs144680712)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769765 SCV000901187 benign Cardiomyopathy 2016-02-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000612867 SCV000734009 likely benign Dilated cardiomyopathy 1AA no assertion criteria provided clinical testing
GeneDx RCV000036891 SCV000166859 benign not specified 2014-03-14 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 RCV000470109 SCV000563588 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036891 SCV000060546 benign not specified 2012-11-21 criteria provided, single submitter clinical testing Ala644Ala in exon 16 of ACTN2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and has been identifie d in 0.8% (30/3738) of African American chromosomes from a broad population by t he NHLBI Exome Sequencing Project (; dbSNP rs144 680712).

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