ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.5403G>A (p.Glu1801=) (rs762151922)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841629 SCV000983603 likely benign not provided 2018-04-09 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 RCV000348708 SCV000385525 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386875 SCV000385526 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294559 SCV000385527 uncertain significance Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000551194 SCV000648273 likely benign Familial hypertrophic cardiomyopathy 14 2017-10-11 criteria provided, single submitter clinical testing

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