ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6038-15_6038-14del

gnomAD frequency: 0.00008  dbSNP: rs752198920
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607224 SCV000720758 likely benign not specified 2017-06-26 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 RCV000772684 SCV000905943 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063886 SCV002373955 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000663844 SCV004824087 likely benign Marfan syndrome 2024-01-08 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV000663844 SCV000787201 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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