ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3456G>A (p.Ala1152=)

gnomAD frequency: 0.00002  dbSNP: rs777442762
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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 RCV001183255 SCV001348937 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001494794 SCV001699459 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-03-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008362 SCV004814802 likely benign Marfan syndrome 2023-11-02 criteria provided, single submitter clinical testing

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