ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8199A>T (p.Thr2733=)

gnomAD frequency: 0.00001  dbSNP: rs1372383251
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001180200 SCV001345069 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193545 SCV001362445 likely benign not specified 2019-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001497064 SCV001701779 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-07-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006636 SCV004844913 likely benign Marfan syndrome 2023-02-24 criteria provided, single submitter clinical testing

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