ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4337-55dup

dbSNP: rs138034853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515922 SCV001724105 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-13 criteria provided, single submitter clinical testing
GeneDx RCV001713098 SCV001942435 benign not provided 2019-05-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17627385, 32123317)
PreventionGenetics, part of Exact Sciences RCV004533934 SCV004746289 benign FBN1-related disorder 2021-02-23 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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