ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6099A>G (p.Glu2033=)

gnomAD frequency: 0.00001  dbSNP: rs1397665480
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536710 SCV000627955 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-02-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186893 SCV001353502 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003792 SCV004814604 likely benign Marfan syndrome 2023-03-23 criteria provided, single submitter clinical testing

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