ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2076C>T (p.Ile692=) (rs144122893)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243361 SCV000318285 likely benign Cardiovascular phenotype 2016-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
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 2017-07-24 criteria provided, single submitter clinical testing
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, http://evs.gs.washington.edu/EVS).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.