ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1029G>T (p.Gly343=)

dbSNP: rs75655780
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611231 SCV000728413 likely benign not specified 2018-03-05 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.
Color Diagnostics, LLC DBA Color Health RCV001190447 SCV001357940 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002597 SCV004823088 likely benign Marfan syndrome 2023-07-22 criteria provided, single submitter clinical testing

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