ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) (rs146426213)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036906 SCV000060561 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala883Ala in exon 21 of ACTN2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.1% (6/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs146426213).
Illumina Clinical Services Laboratory,Illumina RCV000351865 SCV000355953 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387794 SCV000355954 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000470490 SCV000563568 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619154 SCV000736328 likely benign Cardiovascular phenotype 2016-01-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603998 SCV000734016 likely benign Dilated cardiomyopathy 1AA no assertion criteria provided clinical testing

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