ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4011G>A (p.Ser1337=) (rs451794)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244300 SCV000317541 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 RCV000387161 SCV000385609 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292955 SCV000385610 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347687 SCV000385611 likely benign Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037494 SCV000061152 benign not specified 2011-09-27 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037494 SCV000740601 benign not specified 2016-05-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000037494 SCV000308974 benign not specified criteria provided, single submitter clinical testing

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