ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5741G>T (p.Cys1914Phe)

dbSNP: rs1555395827
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659556 SCV000781388 uncertain significance Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing

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