ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2367+8A>G (rs112714025)

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Total submissions: 4
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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 RCV000768746 SCV000900116 likely benign Cardiomyopathy 2017-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000150152 SCV000511972 benign not specified 2015-06-29 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 RCV000228201 SCV000285869 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2017-11-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150152 SCV000197036 likely benign not specified 2017-08-10 criteria provided, single submitter clinical testing c.2367+8A>G in intron 19 of ACTN2: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 0.12% (29/24040) of African chromosomes by the Genome Ag gregation Database (gnomAD,; dbSNP rs112714025 ).

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