ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) (rs144122893)

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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 RCV000036894 SCV000060549 benign not specified 2012-02-02 criteria provided, single submitter clinical testing Ile692Ile in exon 17 of ACTN2: This variant is classified as benign based on its high frequency in the general population (dbSNP rs144122893; NHLBI Exome Sequen cing Project,
GeneDx RCV000036894 SCV000235668 benign not specified 2014-09-22 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 RCV000231389 SCV000285864 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2020-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243361 SCV000318285 likely benign Cardiovascular phenotype 2016-11-30 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000036894 SCV001158459 likely benign not specified 2019-06-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001171002 SCV001333671 benign Cardiomyopathy 2018-03-19 criteria provided, single submitter clinical testing

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