ClinVar Miner

Submissions for variant NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr)

gnomAD frequency: 0.00006  dbSNP: rs138370967
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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 RCV000754493 SCV000804229 likely pathogenic Ascending tubular aorta aneurysm; Bicuspid aortic valve criteria provided, single submitter research

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