ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2139G>A (p.Thr713=) (rs34975493)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029297 SCV000051943 benign Cardiomyopathy 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036895 SCV000060550 benign not specified 2009-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000036895 SCV000166862 benign not specified 2012-12-06 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.
PreventionGenetics,PreventionGenetics RCV000036895 SCV000306600 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251352 SCV000318164 benign Cardiovascular phenotype 2015-07-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000311909 SCV000355941 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357456 SCV000355942 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000467668 SCV000563585 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2018-01-08 criteria provided, single submitter clinical testing

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