ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2598C>T (p.Ile866=)

gnomAD frequency: 0.00001  dbSNP: rs752457534
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Total submissions: 4
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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 RCV000586682 SCV000695489 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178187 SCV001342566 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001422888 SCV001625447 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-08-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002400 SCV004814891 likely benign Marfan syndrome 2023-04-03 criteria provided, single submitter clinical testing

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