ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4056C>T (p.Pro1352=)

gnomAD frequency: 0.00001  dbSNP: rs766969494
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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 RCV001188748 SCV001355884 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-04-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812240 SCV001474541 likely benign not provided 2019-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001487135 SCV001691619 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010305 SCV004814763 likely benign Marfan syndrome 2023-10-06 criteria provided, single submitter clinical testing

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