ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.5475G>A (p.Glu1825=) (rs79143968)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037533 SCV000061191 benign not specified 2011-11-30 criteria provided, single submitter clinical testing
Invitae RCV000226990 SCV000287437 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250388 SCV000318464 benign Cardiovascular phenotype 2016-05-20 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 RCV000299890 SCV000385516 likely benign Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356940 SCV000385517 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264614 SCV000385518 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000037533 SCV000513792 benign not specified 2016-11-23 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770425 SCV000901868 benign Cardiomyopathy 2015-10-23 criteria provided, single submitter clinical testing

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