ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6872-12A>G

gnomAD frequency: 0.00002  dbSNP: rs568325297
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186135 SCV001352479 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-05-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811689 SCV002047828 likely benign not provided 2021-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770078 SCV004572699 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008581 SCV004818136 likely benign Marfan syndrome 2023-12-01 criteria provided, single submitter clinical testing

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