ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2810G>T (p.Cys937Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004813370 SCV005438231 likely pathogenic Marfan syndrome 2024-12-20 criteria provided, single submitter clinical testing

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