ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5919dup (p.Ile1974fs)

dbSNP: rs1555395670
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659559 SCV000781392 likely pathogenic Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing
Department of Vascular Biology, Beijing Anzhen Hospital RCV001374843 SCV001439527 likely pathogenic Isolated thoracic aortic aneurysm 2018-09-01 criteria provided, single submitter research

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