ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3474C>T (p.Ser1158=) (rs587780395)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117680 SCV000151921 uncertain significance not provided 2013-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000225725 SCV000170524 benign not specified 2014-02-12 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.
Color RCV000776102 SCV000910926 likely benign Cardiomyopathy 2018-08-17 criteria provided, single submitter clinical testing
Invitae RCV000117680 SCV001017426 likely benign not provided 2018-05-07 criteria provided, single submitter clinical testing

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