Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor- |
RCV000754492 | SCV000804228 | likely pathogenic | Ascending tubular aorta aneurysm; Bicuspid aortic valve | criteria provided, single submitter | research | ||
Institute of Human Genetics, |
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 |