ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.5652C>T (p.Ala1884=) (rs200662317)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727014 SCV000534368 likely benign not provided 2020-09-03 criteria provided, single submitter clinical testing
Invitae RCV001079496 SCV000557877 benign Familial hypertrophic cardiomyopathy 14 2020-12-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727014 SCV000704929 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617875 SCV000736044 likely benign Cardiovascular phenotype 2016-04-08 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000423727 SCV001519617 benign not specified 2021-03-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000727014 SCV001739858 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000423727 SCV001921832 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000423727 SCV001931445 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000423727 SCV001953021 benign not specified no assertion criteria provided clinical testing

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