ClinVar Miner

Submissions for variant NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) (rs201393279)

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Total submissions: 3
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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 RCV000754492 SCV000804228 likely pathogenic Dilatation of ascending aorta; Bicuspid aortic valve criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV000787049 SCV001468613 uncertain significance Aortic valve disease 3 2021-01-09 criteria provided, single submitter curation This ROBO4 variant was reported as Pathogenic​ in PMID: 30455415 with original nomenclature reported as c.190C>T, p.Arg64Cys. Variant was re-classified as Uncertain Significance based on the criteria PS3_Moderate, PM1_Moderate, PP3_Supporting.
OMIM RCV000787049 SCV000925972 pathogenic Aortic valve disease 3 2019-07-09 no assertion criteria provided literature only

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