ClinVar Miner

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

gnomAD frequency: 0.00097  dbSNP: rs144122893
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham 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, http://evs.gs.washington.edu/EVS).
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 2021-12-13 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036894 SCV002548132 benign not specified 2022-05-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529806 SCV001743908 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000036894 SCV001924567 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529806 SCV001927615 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529806 SCV001966756 likely benign not provided no assertion criteria provided clinical testing

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