ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1838-6C>T

gnomAD frequency: 0.00011  dbSNP: rs374629233
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440271 SCV000512992 benign not specified 2016-02-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000463984 SCV000557064 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187375 SCV001354149 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995957 SCV004818791 likely benign Marfan syndrome 2023-12-01 criteria provided, single submitter clinical testing

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