ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.539-15del

gnomAD frequency: 0.00026  dbSNP: rs193922211
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029749 SCV000052402 uncertain Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
GeneDx RCV000181396 SCV000233698 benign Familial thoracic aortic aneurysm and aortic dissection 2014-05-14 criteria provided, single submitter clinical testing The variant is found in TAAD panel(s).
Color Diagnostics, LLC DBA Color Health RCV000181396 SCV000904478 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-06-11 criteria provided, single submitter clinical testing
Invitae RCV002054492 SCV002431062 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532414 SCV004737827 likely benign FBN1-related disorder 2021-11-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV000029749 SCV004819175 likely benign Marfan syndrome 2024-02-05 criteria provided, single submitter clinical testing

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