ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1589-5T>C

dbSNP: rs1371798538
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524955 SCV001734940 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-12-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144463 SCV003834015 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767925 SCV004580902 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000663434 SCV004819116 likely benign Marfan syndrome 2023-04-28 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV000663434 SCV000786723 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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