ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2855-10C>T

gnomAD frequency: 0.00002  dbSNP: rs1044021136
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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 RCV002112082 SCV002381554 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-12-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005348 SCV004836135 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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