ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.290G>T (p.Arg97Leu) (rs1555685159)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Internal Medicine, The University of Texas McGovern Medical School,The University of Texas Health Science Center at Houston RCV000678041 SCV000804195 likely pathogenic Heritable Thoracic Aortic Disease 2018-04-01 criteria provided, single submitter research This variant was identified in a family with thoracic aortic disease and no evidence of juvenile polyposis and/or hereditary hemorrhagic telangiectasia

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