ClinVar Miner

Submissions for variant NM_019055.6(ROBO4):c.546C>T (p.Pro182=)

gnomAD frequency: 0.00381  dbSNP: rs143174483
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727979 SCV002821674 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing ROBO4: BP4, BP7, BS2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003485725 SCV004239635 benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700603 SCV001926308 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727979 SCV001971489 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003941095 SCV004752350 benign ROBO4-related disorder 2019-06-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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