ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.999C>T (p.Thr333=) (rs78107039)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037544 SCV000061202 benign not specified 2012-04-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037544 SCV000308993 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250575 SCV000318172 benign Cardiovascular phenotype 2015-06-26 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
Illumina Clinical Services Laboratory,Illumina RCV000320577 SCV000385771 likely benign Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379803 SCV000385772 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285459 SCV000385773 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000037544 SCV000513787 benign not specified 2016-09-29 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 RCV000462734 SCV000557894 benign Familial hypertrophic cardiomyopathy 14 2017-08-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030312 SCV000052979 benign Cardiomyopathy 2011-11-20 no assertion criteria provided clinical testing

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