ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4360-7C>T (rs58949384)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770434 SCV000901877 benign Cardiomyopathy 2016-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000037504 SCV000513790 benign not specified 2016-10-06 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 RCV000326348 SCV000385582 likely benign Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380327 SCV000385583 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267142 SCV000385584 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228249 SCV000287426 benign Familial hypertrophic cardiomyopathy 14 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037504 SCV000061162 benign not specified 2011-12-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000037504 SCV000308978 benign not specified criteria provided, single submitter clinical testing

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