ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser)

gnomAD frequency: 0.00067  dbSNP: rs200381100
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000862613 SCV000233702 likely benign not provided 2018-11-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179624 SCV001344332 benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521907 SCV001731327 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-10-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000663599 SCV004814835 benign Marfan syndrome 2024-02-05 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV000663599 SCV000786918 likely benign Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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