ClinVar Miner

Submissions for variant NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser)

gnomAD frequency: 0.00003  dbSNP: rs755747435
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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 School of Medicine RCV000754498 SCV000804234 likely pathogenic Ascending tubular aorta aneurysm; Bicuspid aortic valve criteria provided, single submitter research

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