ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val)

dbSNP: rs1566908956
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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 Human Genetics, University Medical Center Hamburg-Eppendorf RCV000766245 SCV000897662 likely pathogenic Marfan syndrome 2018-11-20 criteria provided, single submitter clinical testing

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