ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4914T>C (p.Ala1638=) (rs178640)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037521 SCV000061179 benign not specified 2011-09-16 criteria provided, single submitter clinical testing This variant is classified as benign because it does not change the amino acid a nd is frequent in the general population (rs178640, MAF >1%).
PreventionGenetics,PreventionGenetics RCV000037521 SCV000308984 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000252865 SCV000317577 benign Cardiovascular phenotype 2015-06-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037521 SCV000604361 benign not specified 2018-07-06 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037521 SCV000740602 benign not specified 2016-05-17 criteria provided, single submitter clinical testing

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