ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4613A>C (p.Glu1538Ala)

dbSNP: rs1343964791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258193 SCV001435087 uncertain significance Aortic aneurysm, familial thoracic 4 criteria provided, single submitter clinical testing
GeneDx RCV001751526 SCV002007312 uncertain significance not provided 2020-08-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function

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