ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7632T>C (p.Thr2544=)

gnomAD frequency: 0.00001  dbSNP: rs1409771185
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002110335 SCV002431525 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-07-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005442 SCV004823470 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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