ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4980C>T (p.Asp1660=) (rs382872)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253927 SCV000317540 benign Cardiovascular phenotype 2015-06-15 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
Illumina Clinical Services Laboratory,Illumina RCV000373702 SCV000385546 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281529 SCV000385547 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338861 SCV000385548 likely benign Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037524 SCV000061182 benign not specified 2011-09-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000037524 SCV000308987 benign not specified criteria provided, single submitter clinical testing

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