ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3883G>C (p.Glu1295Gln) (rs34935550)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253033 SCV000317520 benign Cardiovascular phenotype 2015-10-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Human Development Section,National Institutes of Health RCV000172561 SCV000051404 likely benign not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769410 SCV000900803 benign Cardiomyopathy 2017-04-21 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000172561 SCV000610331 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000037485 SCV000527969 benign not specified 2016-11-10 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 RCV000467452 SCV000557886 benign Familial hypertrophic cardiomyopathy 14 2017-12-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037485 SCV000061143 benign not specified 2015-05-20 criteria provided, single submitter clinical testing p.Glu1295Gln in exon 28 of MYH6: This variant is not expected to have clinical s ignificance because it has been identified in 1.7% (151/8650) of East Asian chro mosomes, including 1 homozygote, by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org; dbSNP rs34935550).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037485 SCV000740614 likely benign not specified 2016-08-31 criteria provided, single submitter clinical testing

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.