ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4748-11T>C

dbSNP: rs549918653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776235 SCV000911459 benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061102 SCV002457685 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-22 criteria provided, single submitter clinical testing

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