ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6739+16C>T

gnomAD frequency: 0.00003  dbSNP: rs375439292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002602725 SCV003491929 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-10-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005406595 SCV006070699 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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