ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3979-10C>A (rs28730768)

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Total submissions: 6
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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 RCV000769407 SCV000900800 uncertain significance Cardiomyopathy 2017-06-20 criteria provided, single submitter clinical testing
GeneDx RCV000611155 SCV000725914 likely benign not specified 2017-12-22 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 RCV000286595 SCV000385630 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342050 SCV000385631 uncertain significance Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404046 SCV000385632 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000466038 SCV000557883 likely benign Familial hypertrophic cardiomyopathy 14 2017-07-10 criteria provided, single submitter clinical testing

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