ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4583-11A>G

gnomAD frequency: 0.00003  dbSNP: rs780024463
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177084 SCV001341217 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068182 SCV002331400 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-10-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006355 SCV004819601 likely benign Marfan syndrome 2023-12-01 criteria provided, single submitter clinical testing

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