ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3209-13T>C

dbSNP: rs1555398650
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002510440 SCV002819839 likely benign not specified 2024-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003775565 SCV004567741 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-03-10 criteria provided, single submitter clinical testing

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