ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6997+18C>T

dbSNP: rs148116316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001683853 SCV001897740 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073193 SCV002454042 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-21 criteria provided, single submitter clinical testing

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