ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3388G>A (p.Ala1130Thr) (rs28730771)

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Total submissions: 6
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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 RCV000037476 SCV000051568 benign not specified 2013-06-24 criteria provided, single submitter research
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,PreventionGenetics RCV000037476 SCV000308971 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000252089 SCV000317726 benign Cardiovascular phenotype 2015-07-15 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770442 SCV000901885 benign Cardiomyopathy 2015-11-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037476 SCV001158903 benign not specified 2018-07-18 criteria provided, single submitter clinical testing

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