ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6675T>C (p.Tyr2225=)

gnomAD frequency: 0.00001  dbSNP: rs1260533788
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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 RCV000558241 SCV000627970 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-12-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528186 SCV004357340 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-04-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003793 SCV004839515 likely benign Marfan syndrome 2023-11-02 criteria provided, single submitter clinical testing

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