ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4302A>G (p.Glu1434=) (rs145872838)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842222 SCV000984222 likely benign not provided 2018-04-19 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 RCV000283717 SCV000440281 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000648743 SCV000770564 likely benign Aortic aneurysm, familial thoracic 7 2017-12-29 criteria provided, single submitter clinical testing

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