ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4272A>G (p.Pro1424=)

gnomAD frequency: 0.00001  dbSNP: rs1187173937
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001805403 SCV002052625 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074197 SCV002348198 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-04-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009127 SCV004814745 likely benign Marfan syndrome 2023-05-16 criteria provided, single submitter clinical testing

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