ClinVar Miner

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

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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 RCV000617875 SCV000736044 likely benign Cardiovascular phenotype 2016-04-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727014 SCV000704929 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000423727 SCV000534368 likely benign not specified 2017-09-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000263820 SCV000385501 uncertain significance Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321262 SCV000385502 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377303 SCV000385503 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000465557 SCV000557877 benign Familial hypertrophic cardiomyopathy 14 2017-09-05 criteria provided, single submitter clinical testing

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