ClinVar Miner

Submissions for variant NM_019055.6(ROBO4):c.1529A>T (p.Asp510Val) (rs1565325937)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000754501 SCV000804237 uncertain significance Dilatation of ascending aorta; Bicuspid aortic valve criteria provided, single submitter research Possible example of incomplete penetrance.

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