ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) (rs200529923)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036878 SCV000060533 likely benign not specified 2015-07-02 criteria provided, single submitter clinical testing p.Gln484Gln in exon 13 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% (66/66290) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org/; dbSNP rs200529923).
GeneDx RCV000036878 SCV000166855 benign not specified 2013-09-13 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 RCV000227025 SCV000285860 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259373 SCV000355929 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323960 SCV000355930 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619815 SCV000735524 likely benign Cardiovascular phenotype 2016-05-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000227025 SCV001147738 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608256 SCV000734005 likely benign Dilated cardiomyopathy 1AA no assertion criteria provided clinical testing

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