ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4778A>T (p.Gln1593Leu) (rs45574136)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253963 SCV000318296 benign Cardiovascular phenotype 2015-07-08 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/Clinical Genomics Section,National Institutes of Health RCV000037515 SCV000051570 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000037515 SCV000515345 benign not specified 2016-10-24 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.
Illumina Clinical Services Laboratory,Illumina RCV000284203 SCV000385570 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339503 SCV000385571 likely benign Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394446 SCV000385572 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000471328 SCV000557915 benign Familial hypertrophic cardiomyopathy 14 2018-01-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037515 SCV000061173 benign not specified 2011-12-27 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037515 SCV000740604 benign not specified 2016-06-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000037515 SCV000308982 benign not specified criteria provided, single submitter clinical testing

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