ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1298C>T (p.Ser433Leu) (rs143749154)

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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 RCV000251654 SCV000317746 benign Cardiovascular phenotype 2018-02-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768738 SCV000900108 likely benign Cardiomyopathy 2016-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000154651 SCV000235666 benign not specified 2016-10-27 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 RCV000232748 SCV000285856 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154651 SCV000204326 benign not specified 2013-10-10 criteria provided, single submitter clinical testing Ser433Leu in Exon 12 of ACTN2: This variant is not expected to have clinical sig nificance because it has been identified in 1.0% (46/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs143749154).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845357 SCV000987411 likely benign not provided criteria provided, single submitter clinical testing

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