ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5817G>A (p.Gly1939=)

gnomAD frequency: 0.00001  dbSNP: rs767097888
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603943 SCV000727607 likely benign not specified 2018-02-12 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 RCV001505044 SCV001709935 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-04-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528212 SCV004357350 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002593 SCV004814628 likely benign Marfan syndrome 2023-08-08 criteria provided, single submitter clinical testing

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