ClinVar Miner

Submissions for variant NM_019055.6(ROBO4):c.2056+1G>T

dbSNP: rs764038221
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Total submissions: 2
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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 RCV000754502 SCV000804238 likely pathogenic Ascending tubular aorta aneurysm; Bicuspid aortic valve criteria provided, single submitter research
OMIM RCV000787048 SCV000925971 pathogenic Aortic valve disease 3 2019-07-09 no assertion criteria provided literature only

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