ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6375A>G (p.Ala2125=)

dbSNP: rs2141240830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001424142 SCV001626734 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-11-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006958 SCV004818837 likely benign Marfan syndrome 2023-03-23 criteria provided, single submitter clinical testing

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