ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) (rs61742472)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000037438 SCV000054819 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037438 SCV000061096 likely benign not specified 2015-03-21 criteria provided, single submitter clinical testing p.Asp377Glu in exon 12 of MYH6: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (83/10384) of African chromoso mes by the Exome Aggregation Consortium (ExAC,; ; dbSNP rs61742472). This cohort included 2 individuals who carried this variant in the homozygous state.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037438 SCV000225591 likely benign not specified 2015-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000037438 SCV000532224 benign not specified 2016-10-25 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 RCV000529079 SCV000648217 benign Familial hypertrophic cardiomyopathy 14 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619634 SCV000740039 likely benign Cardiovascular phenotype 2019-01-03 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769425 SCV000900818 likely benign Cardiomyopathy 2017-02-16 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000769425 SCV000995410 likely benign Cardiomyopathy 2018-11-28 criteria provided, single submitter clinical testing

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