ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1983C>T (p.Ala661=) (rs372137571)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548304 SCV000636947 likely benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2017-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618551 SCV000737321 likely benign Cardiovascular phenotype 2017-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769767 SCV000901189 uncertain significance Cardiomyopathy 2015-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000841495 SCV000983464 likely benign not provided 2018-04-05 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.

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