ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg)

dbSNP: rs2141305039
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Vascular Biology, Beijing Anzhen Hospital RCV001374790 SCV001439555 likely pathogenic Isolated thoracic aortic aneurysm 2018-09-01 criteria provided, single submitter research
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV003336361 SCV004045944 likely pathogenic Marfan syndrome 2022-09-21 criteria provided, single submitter clinical testing

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