ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.18C>A (p.Pro6=) (rs368367224)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620274 SCV000736403 likely benign Cardiovascular phenotype 2015-07-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000150145 SCV000511966 benign not specified 2015-07-29 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.
Illumina Clinical Services Laboratory,Illumina RCV000259303 SCV000355883 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323888 SCV000355884 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000638643 SCV000760180 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2017-11-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150145 SCV000197008 likely benign not specified 2014-08-27 criteria provided, single submitter clinical testing Pro6Pro in exon 1 of ACTN2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence.

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