ClinVar Miner

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

dbSNP: rs61742472
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Total submissions: 12
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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, Mass General Brigham 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, http://exac.broadinstitute.org; ; dbSNP rs61742472). This cohort included 2 individuals who carried this variant in the homozygous state.
Eurofins Ntd Llc (ga) 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 Hypertrophic cardiomyopathy 14 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619634 SCV000740039 likely benign Cardiovascular phenotype 2019-01-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037438 SCV002511644 likely benign not specified 2022-04-24 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037438 SCV001922865 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037438 SCV001931311 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037438 SCV001972786 benign not specified no assertion criteria provided clinical testing

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