ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.877-8C>G (rs2288601)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000610173 SCV000733997 benign Dilated cardiomyopathy 1AA no assertion criteria provided clinical testing
GeneDx RCV000036923 SCV000166848 benign not specified 2013-01-31 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.
Illumina Clinical Services Laboratory,Illumina RCV000303518 SCV000355901 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358340 SCV000355902 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036923 SCV000060578 benign not specified 2011-07-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000036923 SCV000306602 benign not specified criteria provided, single submitter clinical testing

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