ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4748-6C>T

gnomAD frequency: 0.00003  dbSNP: rs376611471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001455898 SCV001659668 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-08-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524447 SCV001734294 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-01-04 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005405367 SCV006069598 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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