ClinVar Miner

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

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Total submissions: 8
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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 ://; 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

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