ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4460-9C>T

gnomAD frequency: 0.00003  dbSNP: rs372753740
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608312 SCV000722072 likely benign not specified 2017-08-15 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 RCV002064014 SCV002476843 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-03-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528208 SCV004357381 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-01-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002532 SCV004829845 likely benign Marfan syndrome 2024-01-11 criteria provided, single submitter clinical testing

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