ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3388G>A (p.Ala1130Thr) (rs28730771)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252089 SCV000317726 benign Cardiovascular phenotype 2015-07-15 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 RCV000037476 SCV000051568 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770442 SCV000901885 benign Cardiomyopathy 2015-11-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395727 SCV000385678 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303503 SCV000385679 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355921 SCV000385680 likely benign Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037476 SCV000061134 benign not specified 2011-09-30 criteria provided, single submitter clinical testing Benign based on high population frequency (rs28730771)
PreventionGenetics RCV000037476 SCV000308971 benign not specified criteria provided, single submitter clinical testing

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