ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5121T>C (p.Asp1707=)

dbSNP: rs1031351464
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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 RCV000632067 SCV000753170 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-06-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003824 SCV004828624 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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